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2024-04-24 22:02:03, GGRNA : RefSeq release 60 (20130726)
LOCUS NR_046020 3218 bp RNA linear PRI 16-JUL-2013
DEFINITION Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript
variant G, non-coding RNA.
ACCESSION NR_046020
VERSION NR_046020.1 GI:373251167
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3218)
AUTHORS Lee,K., Khan,S., Islam,A., Ansar,M., Andrade,P.B., Kim,S.,
Santos-Cortez,R.L., Ahmad,W. and Leal,S.M.
TITLE Novel TMPRSS3 variants in Pakistani families with autosomal
recessive non-syndromic hearing impairment
JOURNAL Clin. Genet. 82 (1), 56-63 (2012)
PUBMED 21534946
REMARK GeneRIF: Six TMPRSS3 variants were found to cosegregate in 10
consanguineous Pakistani families with autosomal recessive
non-syndromic hearing impairment.
REFERENCE 2 (bases 1 to 3218)
AUTHORS Guerrero,K., Wang,Z., Bachvarova,M., Gregoire,J., Renaud,M.C.,
Plante,M. and Bachvarov,D.
TITLE A novel genome-based approach correlates TMPRSS3 overexpression in
ovarian cancer with DNA hypomethylation
JOURNAL Gynecol. Oncol. 125 (3), 720-726 (2012)
PUBMED 22446619
REMARK GeneRIF: Data imply that TMPRSS3-A/D overexpression in EOC is
probably due to hypomethylation of their control region.
REFERENCE 3 (bases 1 to 3218)
AUTHORS Charif,M., Abidi,O., Boulouiz,R., Nahili,H., Rouba,H., Kandil,M.,
Delprat,B., Lenaers,G. and Barakat,A.
TITLE Molecular analysis of the TMPRSS3 gene in Moroccan families with
non-syndromic hearing loss
JOURNAL Biochem. Biophys. Res. Commun. 419 (4), 643-647 (2012)
PUBMED 22382023
REMARK GeneRIF: TMPRSS3 gene is not a major contributor to non-syndromic
deafness in the Moroccan population.
REFERENCE 4 (bases 1 to 3218)
AUTHORS Weegerink,N.J., Schraders,M., Oostrik,J., Huygen,P.L., Strom,T.M.,
Granneman,S., Pennings,R.J., Venselaar,H., Hoefsloot,L.H.,
Elting,M., Cremers,C.W., Admiraal,R.J., Kremer,H. and Kunst,H.P.
TITLE Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3
mutations
JOURNAL J. Assoc. Res. Otolaryngol. 12 (6), 753-766 (2011)
PUBMED 21786053
REMARK GeneRIF: Our data suggest that not only the protein truncating
mutation p.T70fs has a severe effect but also the amino acid
substitutions p.Ala306Thr and p.Val199Met.
REFERENCE 5 (bases 1 to 3218)
AUTHORS Ahmed,Z.M., Li,X.C., Powell,S.D., Riazuddin,S., Young,T.L.,
Ramzan,K., Ahmad,Z., Luscombe,S., Dhillon,K., MacLaren,L.,
Ploplis,B., Shotland,L.I., Ives,E., Riazuddin,S., Friedman,T.B.,
Morell,R.J. and Wilcox,E.R.
TITLE Characterization of a new full length TMPRSS3 isoform and
identification of mutant alleles responsible for nonsyndromic
recessive deafness in Newfoundland and Pakistan
JOURNAL BMC Med. Genet. 5, 24 (2004)
PUBMED 15447792
REMARK GeneRIF: Identification of mutations in TMPRSS3 in Pakistani
families with recessive, nonsyndromic congenital deafness.
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 3218)
AUTHORS Ben-Yosef,T., Wattenhofer,M., Riazuddin,S., Ahmed,Z.M., Scott,H.S.,
Kudoh,J., Shibuya,K., Antonarakis,S.E., Bonne-Tamir,B.,
Radhakrishna,U., Naz,S., Ahmed,Z., Riazuddin,S., Pandya,A.,
Nance,W.E., Wilcox,E.R., Friedman,T.B. and Morell,R.J.
TITLE Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating
congenital autosomal recessive deafness
JOURNAL J. Med. Genet. 38 (6), 396-400 (2001)
PUBMED 11424922
REFERENCE 7 (bases 1 to 3218)
AUTHORS Scott,H.S., Kudoh,J., Wattenhofer,M., Shibuya,K., Berry,A.,
Chrast,R., Guipponi,M., Wang,J., Kawasaki,K., Asakawa,S.,
Minoshima,S., Younus,F., Mehdi,S.Q., Radhakrishna,U.,
Papasavvas,M.P., Gehrig,C., Rossier,C., Korostishevsky,M., Gal,A.,
Shimizu,N., Bonne-Tamir,B. and Antonarakis,S.E.
TITLE Insertion of beta-satellite repeats identifies a transmembrane
protease causing both congenital and childhood onset autosomal
recessive deafness
JOURNAL Nat. Genet. 27 (1), 59-63 (2001)
PUBMED 11137999
REFERENCE 8 (bases 1 to 3218)
AUTHORS Underwood,L.J., Shigemasa,K., Tanimoto,H., Beard,J.B.,
Schneider,E.N., Wang,Y., Parmley,T.H. and O'Brien,T.J.
TITLE Ovarian tumor cells express a novel multi-domain cell surface
serine protease
JOURNAL Biochim. Biophys. Acta 1502 (3), 337-350 (2000)
PUBMED 11068177
REFERENCE 9 (bases 1 to 3218)
AUTHORS Wallrapp,C., Hahnel,S., Muller-Pillasch,F., Burghardt,B.,
Iwamura,T., Ruthenburger,M., Lerch,M.M., Adler,G. and Gress,T.M.
TITLE A novel transmembrane serine protease (TMPRSS3) overexpressed in
pancreatic cancer
JOURNAL Cancer Res. 60 (10), 2602-2606 (2000)
PUBMED 10825129
REFERENCE 10 (bases 1 to 3218)
AUTHORS Bonne-Tamir,B., DeStefano,A.L., Briggs,C.E., Adair,R., Franklyn,B.,
Weiss,S., Korostishevsky,M., Frydman,M., Baldwin,C.T. and
Farrer,L.A.
TITLE Linkage of congenital recessive deafness (gene DFNB10) to
chromosome 21q22.3
JOURNAL Am. J. Hum. Genet. 58 (6), 1254-1259 (1996)
PUBMED 8651303
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AY633572.1, AK172842.1 and
AI251446.1.
Summary: This gene encodes a protein that belongs to the serine
protease family. The encoded protein contains a serine protease
domain, a transmembrane domain, an LDL receptor-like domain, and a
scavenger receptor cysteine-rich domain. Serine proteases are known
to be involved in a variety of biological processes, whose
malfunction often leads to human diseases and disorders. This gene
was identified by its association with both congenital and
childhood onset autosomal recessive deafness. This gene is
expressed in fetal cochlea and many other tissues, and is thought
to be involved in the development and maintenance of the inner ear
or the contents of the perilymph and endolymph. This gene was also
identified as a tumor-associated gene that is overexpressed in
ovarian tumors. Alternatively spliced transcript variants have been
described. [provided by RefSeq, Jan 2012].
Transcript Variant: This variant (G), which is also known as
TMPRSS3e in PMID:15447792, contains a significantly longer 5' exon
and appears to use an upstream promoter, compared to variant A.
This variant is represented as non-coding due to the presence of an
upstream ORF that is predicted to interfere with translation of the
longest in-frame ORF. Translation of the upstream ORF renders the
transcript a candidate for nonsense-mediated mRNA decay (NMD).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-2526 AY633572.1 1-2526
2527-2631 AK172842.1 1732-1836
2632-3192 AY633572.1 2632-3192
3193-3218 AI251446.1 1-26 c
FEATURES Location/Qualifiers
source 1..3218
/organism="Homo sapiens"
/mol_type="transcribed RNA"
/db_xref="taxon:9606"
/chromosome="21"
/map="21q22.3"
gene 1..3218
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/note="transmembrane protease, serine 3"
/db_xref="GeneID:64699"
/db_xref="HGNC:11877"
/db_xref="MIM:605511"
misc_RNA 1..3218
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/product="transmembrane protease, serine 3, transcript
variant G"
/db_xref="GeneID:64699"
/db_xref="HGNC:11877"
/db_xref="MIM:605511"
exon 1..905
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="alignment:Splign:1.39.8"
misc_feature 15..236
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="COORDINATES: ab initio prediction:ORF Finder"
/note="long (>35aa) upstream ORF has strong Kozak
sequence; nonsense-mediated mRNA decay (NMD) candidate"
variation complement(73)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="c"
/db_xref="dbSNP:183079100"
variation complement(200)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:191318166"
variation complement(301)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:28485865"
variation complement(305)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="t"
/db_xref="dbSNP:79773318"
variation complement(332)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:3829962"
variation complement(397)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:117381866"
variation complement(408)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:3814902"
variation complement(419)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:186760519"
variation complement(554)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:182152268"
variation complement(604)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:370921874"
misc_feature 705..2321
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="COORDINATES:
alignment:Blast2seq::RefSeq|NM_024022.2"
/note="primary ORF"
variation complement(714)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:375270498"
variation complement(759)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:56100074"
variation complement(769)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:377532101"
variation complement(775)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:147296608"
variation complement(785)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:191054653"
variation complement(788)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:56347158"
variation complement(810)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:200277359"
variation complement(826)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:56369547"
variation complement(858)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:375438526"
variation complement(870)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:371722059"
exon 906..1050
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="alignment:Splign:1.39.8"
variation complement(906)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:371778905"
variation complement(921)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:186244930"
variation complement(923)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:73372256"
variation complement(928)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:376404558"
variation complement(935)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:373324024"
variation complement(973)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:139865555"
variation complement(974)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:200199344"
variation complement(977)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="t"
/db_xref="dbSNP:143981919"
variation complement(981)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:149481350"
variation complement(988)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="c"
/db_xref="dbSNP:372629505"
variation complement(989)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:138052370"
variation complement(995)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:150765531"
variation complement(1003)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:369418733"
variation complement(1007)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:182209675"
variation complement(1008)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="c"
/db_xref="dbSNP:372359927"
variation complement(1039)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="c"
/db_xref="dbSNP:137882698"
exon 1051..1161
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="alignment:Splign:1.39.8"
variation complement(1057)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="t"
/db_xref="dbSNP:142917173"
variation complement(1079)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="g"
/replace="t"
/db_xref="dbSNP:201147366"
variation complement(1091)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:140388341"
variation complement(1112)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:367999701"
variation complement(1113)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:928302"
variation complement(1117)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:142317371"
variation complement(1149)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:374679649"
exon 1162..1278
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="alignment:Splign:1.39.8"
variation complement(1168)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:185332310"
variation complement(1169)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:200937562"
variation complement(1187)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:139934512"
variation complement(1194)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="c"
/db_xref="dbSNP:143733205"
variation complement(1195)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:146159479"
variation complement(1214)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:192083827"
variation complement(1224)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:45598239"
variation complement(1227)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:199903164"
variation complement(1235)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:145824109"
variation complement(1236)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:143762350"
variation complement(1238)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:143130957"
variation complement(1243)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201811831"
variation complement(1247)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:375429122"
variation complement(1256)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:146621712"
variation 1264
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:387906915"
variation 1265
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:111033502"
variation complement(1266)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:373058706"
variation complement(1272)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:139805921"
variation complement(1273)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:200028529"
exon 1279..1402
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="alignment:Splign:1.39.8"
variation complement(1281)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201632198"
variation complement(1282)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:139484231"
variation 1287
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:35227181"
variation complement(1301)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:142577467"
variation complement(1302)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:200090033"
variation complement(1303)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201007237"
variation complement(1328)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:141682398"
variation complement(1347)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:144556872"
variation complement(1367)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:142784113"
variation complement(1368)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:140614903"
variation complement(1369)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="c"
/db_xref="dbSNP:147231991"
variation complement(1388)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:61731564"
variation complement(1393)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:372586986"
exon 1403..1528
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="alignment:Splign:1.39.8"
variation complement(1405)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:368884558"
variation complement(1407)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:187406481"
variation complement(1408)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="t"
/db_xref="dbSNP:181757077"
variation complement(1409)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:2839501"
variation complement(1422)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:189002288"
variation complement(1436)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:376399439"
variation complement(1450..1451)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace=""
/replace="c"
/db_xref="dbSNP:34332832"
variation complement(1453)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="g"
/replace="t"
/db_xref="dbSNP:150397427"
variation complement(1472)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:141476064"
variation complement(1496)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:201438268"
variation complement(1497)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:148313943"
exon 1529..1572
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="alignment:Splign:1.39.8"
variation complement(1545)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:145109634"
variation complement(1549)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:200153943"
variation complement(1563)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="c"
/db_xref="dbSNP:141372828"
exon 1573..1738
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="alignment:Splign:1.39.8"
variation complement(1596)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:146604336"
variation complement(1602)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:145913750"
variation 1603
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:137853000"
variation complement(1607)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:376455414"
variation complement(1622)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:373261804"
variation complement(1625)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:369273878"
variation complement(1637)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:201260442"
variation complement(1661)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:202037999"
variation complement(1671)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:149001183"
variation complement(1683)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:372526764"
variation complement(1700)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:369903582"
variation complement(1701)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:376797288"
variation 1709
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:137852999"
variation complement(1710)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:371345947"
variation complement(1713)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:2839500"
exon 1739..1908
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="alignment:Splign:1.39.8"
variation complement(1742)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:149869600"
variation complement(1745)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:147181936"
variation complement(1757)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:147785678"
variation complement(1766)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="c"
/db_xref="dbSNP:144303402"
variation complement(1767)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="c"
/db_xref="dbSNP:373744270"
variation complement(1787)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:140552212"
variation complement(1807)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:371475934"
variation complement(1812)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="t"
/db_xref="dbSNP:147189374"
variation complement(1872)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:181949335"
variation complement(1889)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:145235893"
exon 1909..2004
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="alignment:Splign:1.39.8"
variation complement(1913)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:115223836"
variation complement(1916)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:117766615"
variation complement(1925)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="g"
/replace="t"
/db_xref="dbSNP:371149049"
variation complement(1929)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:140676332"
variation complement(1954)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:144682332"
variation complement(1955)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:192630206"
variation complement(1958)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="t"
/db_xref="dbSNP:376916029"
variation complement(1960)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:369161852"
variation complement(1975)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:200002841"
variation complement(1976)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:374149338"
variation complement(1994)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="t"
/db_xref="dbSNP:200554019"
variation 1998
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:111033261"
variation complement(2004)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:377604843"
exon 2005..2150
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="alignment:Splign:1.39.8"
variation complement(2013)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:188750127"
variation complement(2018)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:199751071"
variation complement(2035)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:200777266"
variation complement(2072)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:145077154"
variation complement(2078)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:113747896"
variation 2084
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:111033292"
variation complement(2085)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:371448615"
variation complement(2116)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201172277"
variation complement(2124)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="c"
/db_xref="dbSNP:371402895"
variation complement(2126)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:374082620"
variation complement(2128)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:145766262"
variation complement(2129)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:140620963"
variation complement(2136)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:151315833"
variation 2139
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:111033537"
exon 2151..2303
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="alignment:Splign:1.39.8"
variation 2167
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:28939084"
variation complement(2209)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:377531325"
variation complement(2222)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:143447868"
variation complement(2225)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:372469227"
variation complement(2231)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:56178910"
variation complement(2232)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:56264519"
variation complement(2242)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:144344468"
variation complement(2252)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:369050452"
variation complement(2260)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:374775170"
variation complement(2265)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:114904237"
variation complement(2291)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:186972955"
variation complement(2295)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:147621273"
variation complement(2299)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201018751"
exon 2304..3196
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/inference="alignment:Splign:1.39.8"
variation complement(2319)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:149919890"
variation complement(2323)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:13047838"
variation complement(2330)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:376617444"
variation complement(2337)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:373631775"
variation complement(2374)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:137903612"
variation complement(2393)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:146942080"
variation complement(2458)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:374108302"
variation complement(2510)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:114813487"
variation complement(2512)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:116789917"
variation complement(2518)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:112618394"
variation complement(2527)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:225309"
variation complement(2567)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:57692239"
variation complement(2573)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:377203280"
variation complement(2580)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="c"
/db_xref="dbSNP:75706305"
variation complement(2585)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:186721880"
variation complement(2590..2591)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace=""
/replace="tcc"
/db_xref="dbSNP:372103778"
variation complement(2655)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:182472675"
variation complement(2728)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="t"
/db_xref="dbSNP:145515753"
variation complement(2730)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:55954914"
variation complement(2732)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="c"
/db_xref="dbSNP:140838491"
variation complement(2813)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:115398434"
variation complement(2814)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:146497192"
variation complement(2828)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="g"
/db_xref="dbSNP:193295918"
variation complement(2861)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:144138830"
variation complement(2899)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace=""
/replace="g"
/db_xref="dbSNP:34908991"
variation complement(2975)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="c"
/replace="t"
/db_xref="dbSNP:139451134"
variation complement(3044)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="c"
/db_xref="dbSNP:188772709"
variation complement(3051)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="c"
/db_xref="dbSNP:61654202"
variation complement(3076)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="g"
/replace="t"
/db_xref="dbSNP:146774207"
variation complement(3098)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="g"
/replace="t"
/db_xref="dbSNP:35447393"
variation complement(3136)
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
/replace="a"
/replace="g"
/db_xref="dbSNP:116974943"
polyA_site 3193
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
polyA_site 3196
/gene="TMPRSS3"
/gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
ORIGIN
ttctgcttttaatgatggcagctccagaaatggtgagtaaaatgggtgtgaggagagaagatgcttctcaacacttctcagtgttgtacagcttgccaaccacagcctgtttgggaggggatgttctcacccaggttccatctttcagaagccatttgcccacttattctttttatatggataaacgatgtaatttgctacatgctgataataaacagaggtatcagcaagaatgaaagccagaaaatggcccaacatgaacttcttgcttttctaagttactctttcaagctcttcttgcgatagaaatgaaatgaacatttttggcacagaactcttgtttagattttactatgatcttgggaaacacgggttgcttcaaatggcttactagatccctttggaatttcaaacgttacaacaggtagtcacaaagggaatgaaagcggatgatctgagtgtctgtgctgatgtgcctgctggagcccctgtggattttagcccttggaggaagcaggttcccagagcagccatgcctgatatctgggagagggaactagaatttaattgggaatcttctgctatttccctgcttcctccgccctctcagagttacagggaatgacttagaaaggtctctggtctccttggcattgtgataggtggaattctttcgtaggaaacacagccccggggttattttgatgcaagccgttggtccaaagccactccccactttgctatgtgggggaaggaccgggcaccggacggctcgggtactttcgttcttaattaggtcatgcccgtgtgagccaggaaagggctgtgtttatgggaagccagtaacactgtggcctactatctcttccgtggtgccatctacatttttgggactcgggaattatgaggtagaggtggaggcggagccggatgtcagaggtcctgaaatagtcaccatgggggaaaatgatccgcctgctgttgaagcccccttctcattccgatcgctttttggccttgatgatttgaaaataagtcctgttgcaccagatgcagatgctgttgctgcacagatcctgtcactgctgccattgaagttttttccaatcatcgtcattgggatcattgcattgatattagcactggccattggtctgggcatccacttcgactgctcagggaagtacagatgtcgctcatcctttaagtgtatcgagctgatagctcgatgtgacggagtctcggattgcaaagacggggaggacgagtaccgctgtgtccgggtgggtggtcagaatgccgtgctccaggtgttcacagctgcttcgtggaagaccatgtgctccgatgactggaagggtcactacgcaaatgttgcctgtgcccaactgggtttcccaagctatgtgagttcagataacctcagagtgagctcgctggaggggcagttccgggaggagtttgtgtccatcgatcacctcttgccagatgacaaggtgactgcattacaccactcagtatatgtgagggagggatgtgcctctggccacgtggttaccttgcagtgcacagcctgtggtcatagaaggggctacagctcacgcatcgtgggtggaaacatgtccttgctctcgcagtggccctggcaggccagccttcagttccagggctaccacctgtgcgggggctctgtcatcacgcccctgtggatcatcactgctgcacactgtgtttatgacttgtacctccccaagtcatggaccatccaggtgggtctagtttccctgttggacaatccagccccatcccacttggtggagaagattgtctaccacagcaagtacaagccaaagaggctgggcaatgacatcgcccttatgaagctggccgggccactcacgttcaatgaaatgatccagcctgtgtgcctgcccaactctgaagagaacttccccgatggaaaagtgtgctggacgtcaggatggggggccacagaggatggagcaggtgacgcctcccctgtcctgaaccacgcggccgtccctttgatttccaacaagatctgcaaccacagggacgtgtacggtggcatcatctccccctccatgctctgcgcgggctacctgacgggtggcgtggacagctgccagggggacagcggggggcccctggtgtgtcaagagaggaggctgtggaagttagtgggagcgaccagctttggcatcggctgcgcagaggtgaacaagcctggggtgtacacccgtgtcacctccttcctggactggatccacgagcagatggagagagacctaaaaacctgaagaggaaggggacaagtagccacctgagttcctgaggtgatgaagacagcccgatcctcccctggactcccgtgtaggaacctgcacacgagcagacacccttggagctctgagttccggcaccagtagcaggcccgaaagaggcacccttccatctgattccagcacaaccttcaagctgctttttgttttttgtttttttgagatggagtctcgctctgttgcccaggctggagtgcagtggcgaaatccctgctcactgcagcctccgcttccctggttcaagcgattctcttgcctcagcttccccagtagctgggaccacaggtgcccgccaccacacccaactaatttttgtatttttagtagagacagggtttcaccatgttggccaggctgctctcaaacccctgacctcaaatgatgtgcctgcttcagcctcccacagtgctgggattacaggcatgggccaccacgcctagcctcacgctcctttctgatcttcactaagaacaaaagaagcagcaacttgcaagggcggcctttcccactggtccatctggttttctctccaggggtcttgcaaaattcctgacgagataagcagttatgtgacctcacgtgcaaagccaccaacagccactcagaaaagacgcaccagcccagaagtgcagaactgcagtcactgcacgttttcatctctagggaccagaaccaaacccaccctttctacttccaagacttattttcacatgtggggaggttaatctaggaatgactcgtttaaggcctattttcatgatttctttgtagcatttggtgcttgacgtattattgtcctttgattccaaataatatgtttccttccctcattgaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:64699 -> Molecular function: GO:0004252 [serine-type endopeptidase activity] evidence: NAS
GeneID:64699 -> Molecular function: GO:0005044 [scavenger receptor activity] evidence: IEA
GeneID:64699 -> Molecular function: GO:0017080 [sodium channel regulator activity] evidence: IDA
GeneID:64699 -> Biological process: GO:0006508 [proteolysis] evidence: NAS
GeneID:64699 -> Biological process: GO:0006883 [cellular sodium ion homeostasis] evidence: IDA
GeneID:64699 -> Biological process: GO:0007605 [sensory perception of sound] evidence: IEA
GeneID:64699 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IDA
GeneID:64699 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: IDA
GeneID:64699 -> Cellular component: GO:0016021 [integral to membrane] evidence: NAS
GeneID:64699 -> Cellular component: GO:0043025 [neuronal cell body] evidence: IEA
by
@meso_cacase at
DBCLS
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