RGD:9689775 Rat Genome Database

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Variant: RGD:9689775 -  Homo sapiens

RGD ID: 9689775
RS ID: rs45610843
ClinVar ID: CV175526
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127824843  SLC17A8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 100,751,192
GRCh38 12 100,357,414
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021175.1:g.5336C>T
NC_000012.12:g.100357414C>T
NC_000012.11:g.100751192C>T
NP_647480.1:p.Thr8Ile
More... 		02/27/2019 missense variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; Deafness, autosomal dominant 25; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC17A8
Accession:NM_139319
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPFKAFDIFKEKILKPGKEGVKNAVGDSLGILQRKIDGTTEEEDNIELNEEGRPVQTSRPSPPLCDCHCCGLPKRYIIAI
MSGLGFCISFGIRCNLGVAIVEMVNNSTVYVDGKPEIQTAQFNWDPETVGLIHGSFFWGYIMTQIPGGFISNKFAANRVF
GAAIFLTSTLNMFIPSAARVHYGCVMCVRILQGLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGAVVAMPLAGV
LVQYIGWSSVFYIYGMFGIIWYMFWLLQAYECPAAHPTISNEEKTYIETSIGEGANVVSLSKFSTPWKRFFTSLPVYAII
VANFCRSWTFYLLLISQPAYFEEVFGFAISKVGLLSAVPHMVMTIVVPIGGQLADYLRSRQILTTTAVRKIMNCGGFGME
ATLLLVVGFSHTKGVAISFLVLAVGFSGFAISGFNVNHLDIAPRYASILMGISNGVGTLSGMVCPLIVGAMTRHKTREEW
QNVFLIAALVHYSGVIFYGVFASGEKQEWADPENLSEEKCGIIDQDELAEEIELNHESFASPKKKMSYGATSQNCEVQKK
EWKGQRGATLDEEELTSYQNEERNFSTIS*

Gene Symbol:SLC17A8
Accession:NM_001145288
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPFKAFDIFKEKILKPGKEGVKNAVGDSLGILQRKIDGTTEEEDNIELNEEGRPVQTSRPSPPLCDCHCCGLPKRYIIAI
MSGLGFCISFGIRCNLGVAIVEMVNNSTVYVDGKPEIQTAQFNWDPETVGLIHGSFFWGYIMTQIPGGFISNKFAANRVF
GAAIFLTSTLNMFIPSAARVHYGCVMCVRILQGLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGAVVAMPLAGV
LVQYIGWSSVFYIYGMFGIIWYMFWLLQAYECPAAHPTISNEEKTYIETSIGEGANVVSLSVGLLSAVPHMVMTIVVPIG
GQLADYLRSRQILTTTAVRKIMNCGGFGMEATLLLVVGFSHTKGVAISFLVLAVGFSGFAISGFNVNHLDIAPRYASILM
GISNGVGTLSGMVCPLIVGAMTRHKTREEWQNVFLIAALVHYSGVIFYGVFASGEKQEWADPENLSEEKCGIIDQDELAE
EIELNHESFASPKKKMSYGATSQNCEVQKKEWKGQRGATLDEEELTSYQNEERNFSTIS*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000155387 CLINVAR
  RCV000297494 CLINVAR
  RCV000948401 CLINVAR
  RCV003952783 CLINVAR
dbSNP (RS) rs45610843 CLINVAR
MedGen C1854158 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC17A8 CLINVAR
OMIM 605583 CLINVAR
  607557 CLINVAR