RGD:10401342 Rat Genome Database

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Variant: RGD:10401342 -  Homo sapiens

RGD ID: 10401342
RS ID: rs797044991
ClinVar ID: CV204985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126805673  SLC9A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 27,432,470
GRCh38 1 27,105,979
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_030006.1:g.53982C>T
NC_000001.11:g.27105979G>A
NC_000001.10:g.27432470G>A
NP_003038.2:p.Ser464Phe
More... 		09/01/2015 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC9A1
Accession:XM_047428769
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 354
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKDACPGFHVIPTISSIVPESCLLIVVGLLVGGLIKGVGETPPFLQSDVFFLFLLPPIILDAGYFLPLRQFTENLGTIL
IFAVVGTLWNAFFLGGLMYAVCLVGGEQINNIGLLDNLLFGSIISAVDPVAVLAVFEEIHINELLHILVFGESLLNDAVT
VVLYHLFEEFANYEHVGIVDIFLGFLSFFVVALGGVLVGVVYGVIAAFTSRFTSHIRVIEPLFVFLYSYMAYLSAELFHL
SGIMALIASGVVMRPYVEANISHKSHTTIKYFLKMWSSVSETLIFIFLGVSTVAGSHHWNWTFVISTLLFCLIARVLGVL
GLTWFINKFRIVKLTPKDQFIIAYGGLRGAIAFFLGYLLDKKHFPMCDLFLTAIITVIFFTVFVQGMTIRPLVDLLAVKK
KQETKRSINEEIHTQFLDHLLTGIEDICGHYGHHHWKDKLNRFNKKYVKKCLIAGERSKEPQLIAFYHKMEMKQAIELVE
SGGMGKIPSAVSTVSMQNIHPKSLPSERILPALSKDKEEEIRKILRNNLQKTRQRLRSYNRHTLVADPYEEAWNQMLLRR
QKARQLEQKINNYLTVPAHKLDSPTMSRARIGSDPLAYEPKEDLPVITIDPASPQSPESVDLVNEELKGKVLGLSRDPAK
VAEEDEDDDGGIMMRSKETSSPGTDDVFTPAPSDSPSSQRIQRCLSDPGPHPEPGEGEPFFPKGQ*

Gene Symbol:SLC9A1
Accession:XM_011542021
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 354
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKDACPGFHVIPTISSIVPESCLLIVVGLLVGGLIKGVGETPPFLQSDVFFLFLLPPIILDAGYFLPLRQFTENLGTIL
IFAVVGTLWNAFFLGGLMYAVCLVGGEQINNIGLLDNLLFGSIISAVDPVAVLAVFEEIHINELLHILVFGESLLNDAVT
VVLYHLFEEFANYEHVGIVDIFLGFLSFFVVALGGVLVGVVYGVIAAFTSRFTSHIRVIEPLFVFLYSYMAYLSAELFHL
SGIMALIASGVVMRPYVEANISHKSHTTIKYFLKMWSSVSETLIFIFLGVSTVAGSHHWNWTFVISTLLFCLIARVLGVL
GLTWFINKFRIVKLTPKDQFIIAYGGLRGAIAFFLGYLLDKKHFPMCDLFLTAIITVIFFTVFVQGMTIRPLVDLLAVKK
KQETKRSINEEIHTQFLDHLLTGIEDICGHYGHHHWKDKLNRFNKKYVKKCLIAGERSKEPQLIAFYHKMEMKQAIELVE
SGGMGKIPSAVSTVSMQNIHPKSLPSERILPALSKDKEEEIRKILRNNLQKTRQRLRSYNRHTLVADPYEEAWNQMLLRR
QKARQLEQKINNYLTVPAHKLDSPTMSRARIGSDPLAYEPKEDLPVITIDPASPQSPESVDLVNEELKGKVLGLSRDPAK
VAEEDEDDDGGIMMRSKETSSPGTDDVFTPAPSDSPSSQRIQRCLSDPGPHPEPGEGEPFFPKGQ*

Gene Symbol:SLC9A1
Accession:NM_003047
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 464
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLRSGICGLSPHRIFPSLLVVVALVGLLPVLRSHGLQLSPTASTIRSSEPPRERSIGDVTTAPPEVTPESRPVNHSVTD
HGMKPRKAFPVLGIDYTHVRTPFEISLWILLACLMKIGFHVIPTISSIVPESCLLIVVGLLVGGLIKGVGETPPFLQSDV
FFLFLLPPIILDAGYFLPLRQFTENLGTILIFAVVGTLWNAFFLGGLMYAVCLVGGEQINNIGLLDNLLFGSIISAVDPV
AVLAVFEEIHINELLHILVFGESLLNDAVTVVLYHLFEEFANYEHVGIVDIFLGFLSFFVVALGGVLVGVVYGVIAAFTS
RFTSHIRVIEPLFVFLYSYMAYLSAELFHLSGIMALIASGVVMRPYVEANISHKSHTTIKYFLKMWSSVSETLIFIFLGV
STVAGSHHWNWTFVISTLLFCLIARVLGVLGLTWFINKFRIVKLTPKDQFIIAYGGLRGAIAFFLGYLLDKKHFPMCDLF
LTAIITVIFFTVFVQGMTIRPLVDLLAVKKKQETKRSINEEIHTQFLDHLLTGIEDICGHYGHHHWKDKLNRFNKKYVKK
CLIAGERSKEPQLIAFYHKMEMKQAIELVESGGMGKIPSAVSTVSMQNIHPKSLPSERILPALSKDKEEEIRKILRNNLQ
KTRQRLRSYNRHTLVADPYEEAWNQMLLRRQKARQLEQKINNYLTVPAHKLDSPTMSRARIGSDPLAYEPKEDLPVITID
PASPQSPESVDLVNEELKGKVLGLSRDPAKVAEEDEDDDGGIMMRSKETSSPGTDDVFTPAPSDSPSSQRIQRCLSDPGP
HPEPGEGEPFFPKGQ*

Gene Symbol:SLC9A1
Accession:NR_046474
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25590979  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000190486 CLINVAR
dbSNP (RS) rs797044991 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene LOC126805673 CLINVAR
  SLC9A1 CLINVAR
OMIM 107310 CLINVAR
OMIM Allele 107310.0002 CLINVAR