RGD:13837124 Rat Genome Database

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Variant: RGD:13837124 -  Homo sapiens

RGD ID: 13837124
RS ID: rs765407252
ClinVar ID: CV588409
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC26A2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 149,360,159
GRCh38 5 149,980,596
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000112.4:c.1003A>G
LRG_684:g.21714A>G
NG_007147.2:g.21714A>G
NC_000005.10:g.149980596A>G
More... 		06/11/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC26A2
Accession:XM_017009191
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 335
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSESKEQHNVSPRDSAEGNDSYPSGIHLELQRESSTDFKQFETNDQCRPYHRILIERQEKSDTNFKEFVIKKLQKNCQC
SPAKAKNMILGFLPVLQWLPKYDLKKNILGDVMSGLIVGILLVPQSIAYSLLAGQEPVYGLYTSFFASIIYFLLGTSRHI
SVGIFGVLCLMIGETVDRELQKAGYDNAHSAPSLGMVSNGSTLLNHTSDRICDKSCYAIMVGSTVTFIAGVYQVAMGFFQ
VGFVSVYLSDALLSGFVTGASFTILTSQAKYLLGLNLPRTNGVGSLITTWIHVFRNIHKTNLCDLITSLLCLLVLLPTKE
LNEHFKSKLKAPIPVELVVVVAATLASHFGKLHENYNSSIAGHIPTGFMPPKVPEWNLIPSVAVDAIAISIIGFAITVSL
SEMFAKKHGYTVKANQEMYAIGFCNIIPSFFHCFTTSAALAKTLVKESTGCHTQLSGVVTALVLLLVLLVIAPLFYSLQK
SVLGVITIVNLRGALRKFRDLPKMWSISRMDTVIWFVTMLSSALLSTEIGLLVGVCFSIFCVILRTQKPKSSLLGLVEES
EVFESVSAYKNLQIKPGIKIFRFVAPLYYINKECFKSALYKQTVNPILIKVAWKKAAKRKIKEKVVTLGGIQDEMSVQLS
HDPLELHTIVIDCSAIQFLDTAGIHTLKEVRRDYEAIGIQVLLAQCNPTVRDSLTNGEYCKKEEENLLFYSVYEAMAFAE
VSKNQKGVCVPNGLSLSSD*

Gene Symbol:SLC26A2
Accession:NM_000112
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 335
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSESKEQHNVSPRDSAEGNDSYPSGIHLELQRESSTDFKQFETNDQCRPYHRILIERQEKSDTNFKEFVIKKLQKNCQC
SPAKAKNMILGFLPVLQWLPKYDLKKNILGDVMSGLIVGILLVPQSIAYSLLAGQEPVYGLYTSFFASIIYFLLGTSRHI
SVGIFGVLCLMIGETVDRELQKAGYDNAHSAPSLGMVSNGSTLLNHTSDRICDKSCYAIMVGSTVTFIAGVYQVAMGFFQ
VGFVSVYLSDALLSGFVTGASFTILTSQAKYLLGLNLPRTNGVGSLITTWIHVFRNIHKTNLCDLITSLLCLLVLLPTKE
LNEHFKSKLKAPIPVELVVVVAATLASHFGKLHENYNSSIAGHIPTGFMPPKVPEWNLIPSVAVDAIAISIIGFAITVSL
SEMFAKKHGYTVKANQEMYAIGFCNIIPSFFHCFTTSAALAKTLVKESTGCHTQLSGVVTALVLLLVLLVIAPLFYSLQK
SVLGVITIVNLRGALRKFRDLPKMWSISRMDTVIWFVTMLSSALLSTEIGLLVGVCFSIFCVILRTQKPKSSLLGLVEES
EVFESVSAYKNLQIKPGIKIFRFVAPLYYINKECFKSALYKQTVNPILIKVAWKKAAKRKIKEKVVTLGGIQDEMSVQLS
HDPLELHTIVIDCSAIQFLDTAGIHTLKEVRRDYEAIGIQVLLAQCNPTVRDSLTNGEYCKKEEENLLFYSVYEAMAFAE
VSKNQKGVCVPNGLSLSSD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000733431 CLINVAR
dbSNP (RS) rs765407252 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SLC26A2 CLINVAR
OMIM 606718 CLINVAR