RGD:14744920 Rat Genome Database

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Variant: RGD:14744920 -  Homo sapiens

RGD ID: 14744920
RS ID: rs773781970
ClinVar ID: CV628999
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 172,644,337
GRCh38 2 171,787,827
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003705.5:c.1706G>A
NG_011781.2:g.111477G>A
NC_000002.12:g.171787827C>T
NC_000002.11:g.172644337C>T
More... 		12/20/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC25A12
Accession:XM_047446142
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 478
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQAWWQSWRRVPAPVRENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDK
SKSGMISGLDFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLAGTRKDVEVTKE
EFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGALPYNLAELQRQQSPGLGRPIWLQIAESAYRFT
LGSVAGAVGATAVYPIDLVKTRMQNQRGSGSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVND
FVRDKFTRRDGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGLYKGAKACFLRD
IPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCFRKILQEE
GPSAFWKGTAARVFRSSPQFGVTLVTYELLQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIEN
KFGLYLPKFKSPSVAVVQPKAAVAATQ*

Gene Symbol:SLC25A12
Accession:NM_003705
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 569
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVADQTKDGLISYQEFLAF
ESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLE
HARQAFALKDKSKSGMISGLDFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLA
GTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGALPYNLAELQRQQSPGLGRPIW
LQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGSGSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVA
PEKAIKLTVNDFVRDKFTRRDGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGL
YKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPADVIKTRLQVAARAGQTTYSGV
IDCFRKILQEEGPSAFWKGTAARVFRSSPQFGVTLVTYELLQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYR
LATATFAGIENKFGLYLPKFKSPSVAVVQPKAAVAATQ*

Gene Symbol:SLC25A12
Accession:NR_047549
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000824402 CLINVAR
dbSNP (RS) rs773781970 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC25A12 CLINVAR
OMIM 603667 CLINVAR