ID AH002655; SV 2; linear; genomic DNA; STD; HUM; 2478 BP. XX AC AH002655; M21543-M21545; M21547-M21550; M23224-M23225; M31022-M31023; XX DT 13-JUN-2016 (Rel. 129, Created) DT 13-JUN-2016 (Rel. 129, Last updated, Version 1) XX DE Homo sapiens CYP21B protein (CYP21) gene, complete cds. XX KW 21-hydroxylase. XX OS Homo sapiens (human) OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. XX RN [1] RP 1-2478 RX DOI; 10.1172/JCI113562. RX PUBMED; 3267225. RA Globerman H., Amor M., Parker K.L., New M.I., White P.C.; RT "Nonsense mutation causing steroid 21-hydroxylase deficiency"; RL J. Clin. Invest. 82(1):139-144(1988). XX DR MD5; d0a4a559be06e4c4fccb07eff7b857e3. XX CC On or before Jun 10, 2016 this sequence version replaced gi:180951, CC gi:180952, gi:180953, gi:180954, gi:180955, gi:180956, gi:180957, CC gi:180958, gi:180959, gi:180960, gi:180961. XX FH Key Location/Qualifiers FH FT source 1..2478 FT /organism="Homo sapiens" FT /map="6p21.3" FT /mol_type="genomic DNA" FT /db_xref="taxon:9606" FT gene 1..2478 FT /gene="CYP21" FT CDS join(1..202,307..396,555..709,814..915,1020..1121, FT 1226..1312,1417..1617,1722..1900,2005..2108,2213..2478) FT /codon_start=1 FT /gene="CYP21" FT /note="CYP21B protein" FT /db_xref="GOA:Q16741" FT /db_xref="InterPro:IPR001128" FT /db_xref="InterPro:IPR002401" FT /db_xref="InterPro:IPR017972" FT /db_xref="InterPro:IPR036396" FT /db_xref="UniProtKB/TrEMBL:Q16741" FT /protein_id="AAA52063.1" FT /translation="MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDL FT PIYLLGLTQKFGPIYRLHLGLQDVVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVSKN FT YPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEE FT EFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNP FT GLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGH FT LHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDR FT ARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVW FT ERPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDA FT LPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQNQ" FT prim_transcript <1..>204 FT /gene="CYP21" FT /note="CYP21B mRNA and intron" FT exon <1..202 FT /gene="CYP21" FT /number=1 FT /note="CYP21B protein; G00-120-605" FT intron 203..>204 FT /gene="CYP21" FT /note="intron A" FT gap 205..304 FT /estimated_length=unknown FT prim_transcript <305..>405 FT /gene="CYP21" FT /note="CYP21B mRNA" FT intron <305..306 FT /gene="CYP21" FT /note="CYP21B protein intron A" FT exon 307..396 FT /gene="CYP21" FT /number=2 FT /note="G00-120-605" FT intron 397..>405 FT /gene="CYP21" FT /note="CYP21B protein intron B" FT gap 406..505 FT /estimated_length=unknown FT prim_transcript <506..>711 FT /gene="CYP21" FT /note="CYP21B mRNA" FT intron <506..554 FT /gene="CYP21" FT /note="CYP21B protein intron B" FT exon 555..709 FT /gene="CYP21" FT /number=3 FT /note="G00-120-605" FT intron 710..>711 FT /gene="CYP21" FT /note="CYP21B protein intron C" FT gap 712..811 FT /estimated_length=unknown FT prim_transcript <812..>917 FT /gene="CYP21" FT /note="CYP21B mRNA" FT intron <812..813 FT /gene="CYP21" FT /note="CYP21B protein intron C" FT exon 814..915 FT /gene="CYP21" FT /number=4 FT /note="G00-120-605" FT intron 916..>917 FT /gene="CYP21" FT /note="CYP21B protein intron D" FT gap 918..1017 FT /estimated_length=unknown FT prim_transcript <1018..>1123 FT /gene="CYP21" FT /note="CYP21B mRNA" FT intron <1018..1019 FT /gene="CYP21" FT /note="CYP21B protein intron D" FT exon 1020..1121 FT /gene="CYP21" FT /number=5 FT /note="G00-120-605" FT intron 1122..>1123 FT /gene="CYP21" FT /note="CYP21B protein intron E" FT gap 1124..1223 FT /estimated_length=unknown FT prim_transcript <1224..>1314 FT /gene="CYP21" FT /note="CYP21B mRNA" FT intron <1224..1225 FT /gene="CYP21" FT /note="CYP21B protein intron E" FT exon 1226..1312 FT /gene="CYP21" FT /number=6 FT /note="G00-120-605" FT intron 1313..>1314 FT /gene="CYP21" FT /note="CYP21B protein intron F" FT gap 1315..1414 FT /estimated_length=unknown FT prim_transcript <1415..>1619 FT /gene="CYP21" FT /note="CYP21B mRNA" FT intron <1415..1416 FT /gene="CYP21" FT /note="CYP21B protein intron F" FT exon 1417..1617 FT /gene="CYP21" FT /note="G00-120-605" FT intron 1618..>1619 FT /gene="CYP21" FT /note="CYP21B protein intron G" FT gap 1620..1719 FT /estimated_length=unknown FT prim_transcript <1720..>1902 FT /gene="CYP21" FT /note="CYP21B mRNA" FT intron <1720..1721 FT /gene="CYP21" FT /note="CYP21B protein intron G" FT exon 1722..1900 FT /gene="CYP21" FT /number=8 FT /note="G00-120-605" FT variation 1737 FT /gene="CYP21" FT /note="t in mutant; c in wild type" FT intron 1901..>1902 FT /gene="CYP21" FT /note="CYP21B protein intron H" FT gap 1903..2002 FT /estimated_length=unknown FT prim_transcript <2003..>2110 FT /gene="CYP21" FT /note="CYP21B mRNA" FT intron <2003..2004 FT /gene="CYP21" FT /note="CYP21B protein intron H" FT exon 2005..2108 FT /gene="CYP21" FT /number=9 FT /note="G00-120-605" FT intron 2109..>2110 FT /gene="CYP21" FT /note="CYP21B protein intron I" FT gap 2111..2210 FT /estimated_length=unknown FT prim_transcript <2211..>2478 FT /gene="CYP21" FT /note="CYP21B mRNA" FT intron <2211..2212 FT /gene="CYP21" FT /note="CYP21B protein intron I" FT exon 2213..>2478 FT /gene="CYP21" FT /number=10 FT /note="CYP21B protein; G00-120-605" XX SQ Sequence 2478 BP; 299 A; 514 C; 455 G; 310 T; 900 other; atgctgctcc tgggcctgct gctgctgctg cccctgctgg ctggcgcccg cctgctgtgg 60 aactggtgga agctccggag cctccacctc ccgcctcttg ccccgggctt cttgcacctg 120 ctgcagcccg acctccccat ctatctgctt ggcctgactc agaaattcgg gcccatctac 180 aggctccacc ttgggctgca aggtnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 240 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 300 nnnnagatgt ggtggtgctg aactccaaga ggaccattga ggaagccatg gtcaaaaagt 360 gggcagactt tgctggcaga cctgagccac ttacctgtaa gggccnnnnn nnnnnnnnnn 420 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 480 nnnnnnnnnn nnnnnnnnnn nnnnncggct tccttggtca gttcccaccc tccacccccc 540 aactcctcct gcagacaagc tggtgtctaa gaactacccg gacctgtcct tgggagacta 600 ctccctgctc tggaaagccc acaagaagct cacccgctca gccctgctgc tgggcatccg 660 tgactccatg gagccagtgg tggagcagct gacccaggag ttctgtgagg tnnnnnnnnn 720 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 780 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nagcgcatga gagcccagcc cggcacccct 840 gtggccattg aggaggaatt ctctctcctc acctgcagca tcatctgtta cctcaccttc 900 ggagacaaga tcaaggtnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 960 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnagg 1020 acgacaactt aatgcctgcc tattacaaat gtatccagga ggtgttaaaa acctggagcc 1080 actggtccat ccaaattgtg gacgtgattc cctttctcag ggtnnnnnnn nnnnnnnnnn 1140 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1200 nnnnnnnnnn nnnnnnnnnn nnnagttctt ccccaatcca ggtctccgga ggctgaagca 1260 ggccatagag aagagggatc acatcgtgga gatgcagctg aggcagcaca aggtnnnnnn 1320 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1380 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnaggaga gcctggtggc aggccagtgg 1440 agggacatga tggactacat gctccaaggg gtggcgcagc cgagcatgga agagggctct 1500 ggacagctcc tggaagggca cttgcacatg gctgcagtgg acctcctgat cggtggcact 1560 gagaccacag caaacaccct ctcctgggcc gtggtttttt tgcttcacca ccctgaggtn 1620 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1680 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnna gattcagcag cgactgcagg 1740 aggagctaga ccacgaactg ggccctggtg cctccagctc ccgggtcccc tacaaggacc 1800 gtgcacggct gcccttgctc aatgccacca tcgccgaggt gctgcgcctg cggcccgttg 1860 tgcccttagc cttgccccac cgcaccacac ggcccagcag gtnnnnnnnn nnnnnnnnnn 1920 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1980 nnnnnnnnnn nnnnnnnnnn nnagcatctc tggctacgac atccctgagg gcacagtcat 2040 cattccgaac ctccaaggcg cccacctgga tgagacggtc tgggagaggc cacatgagtt 2100 ctggcctggt nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2160 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn agatcgcttc 2220 ctggagccag gcaagaactc cagagctctg gccttcggct gcggtgcccg cgtgtgcctg 2280 ggcgagccgt tggcgcgcct ggagctcttc gtggtgctga cccgactgct gcaggccttc 2340 acgctgctgc cctccgggga cgccctgccc tccctgcagc ccctgcccca ctgcagtgtc 2400 atcctcaaga tgcagccttt ccaagtgcgg ctgcagcccc gggggatggg ggcccacagc 2460 ccgggccaga accagtga 2478 //