RGD:12897044 Rat Genome Database

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Variant: RGD:12897044 -  Homo sapiens

RGD ID: 12897044
RS ID: rs771960655
ClinVar ID: CV391657
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A12  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 172,644,351
GRCh38 2 171,787,841
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.171787841G>T
NC_000002.11:g.172644351G>T
NP_003696.2:p.Phe564Leu
NR_047549.2:n.1606C>A
More... 		12/29/2016 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC25A12
Accession:NM_003705
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 564
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVADQTKDGLISYQEFLAF
ESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLE
HARQAFALKDKSKSGMISGLDFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLA
GTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGALPYNLAELQRQQSPGLGRPIW
LQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGSGSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVA
PEKAIKLTVNDFVRDKFTRRDGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGL
YKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPADVIKTRLQVAARAGQTTYSGV
IDCLRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYELLQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYR
LATATFAGIENKFGLYLPKFKSPSVAVVQPKAAVAATQ*

Gene Symbol:SLC25A12
Accession:XM_047446142
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 473
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQAWWQSWRRVPAPVRENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDK
SKSGMISGLDFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLAGTRKDVEVTKE
EFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGALPYNLAELQRQQSPGLGRPIWLQIAESAYRFT
LGSVAGAVGATAVYPIDLVKTRMQNQRGSGSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVND
FVRDKFTRRDGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGLYKGAKACFLRD
IPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCLRKILREE
GPSAFWKGTAARVFRSSPQFGVTLVTYELLQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIEN
KFGLYLPKFKSPSVAVVQPKAAVAATQ*

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 RCV000456601 CLINVAR
dbSNP (RS) rs771960655 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC25A12 CLINVAR
OMIM 603667 CLINVAR