RGD:15131988 Rat Genome Database

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Variant: RGD:15131988 -  Homo sapiens

RGD ID: 15131988
RS ID: rs370973358
ClinVar ID: CV683420
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A12  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 172,644,160
GRCh38 2 171,787,650
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_047549.2:n.1670C>A
NM_003705.5:c.1756C>A
NG_011781.2:g.111654C>A
NC_000002.12:g.171787650G>T
More... 		09/09/2018 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC25A12
Accession:XM_047446142
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 495
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQAWWQSWRRVPAPVRENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDK
SKSGMISGLDFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLAGTRKDVEVTKE
EFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGALPYNLAELQRQQSPGLGRPIWLQIAESAYRFT
LGSVAGAVGATAVYPIDLVKTRMQNQRGSGSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVND
FVRDKFTRRDGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGLYKGAKACFLRD
IPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCFRKILREE
GPSAFWKGTAARVFRSSPQFGVTLVTYELLQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIEN
KFGLYLPKFKSPSVAVVQPKAAVAATQ*

Gene Symbol:SLC25A12
Accession:NM_003705
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 586
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVADQTKDGLISYQEFLAF
ESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLE
HARQAFALKDKSKSGMISGLDFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLA
GTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGALPYNLAELQRQQSPGLGRPIW
LQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGSGSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVA
PEKAIKLTVNDFVRDKFTRRDGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGL
YKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPADVIKTRLQVAARAGQTTYSGV
IDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYELLQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYR
LATATFAGIENKFGLYLPKFKSPSVAVVQPKAAVAATQ*

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000863718 CLINVAR
  RCV003965671 CLINVAR
dbSNP (RS) rs370973358 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC25A12 CLINVAR
OMIM 603667 CLINVAR