RGD:15159040 Rat Genome Database

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Variant: RGD:15159040 -  Homo sapiens

RGD ID: 15159040
RS ID: rs776563928
ClinVar ID: CV747808
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPIA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 88,991,228
GRCh38 2 88,691,710
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_144563.3:c.12C>T
NG_016710.1:g.5053C>T
NC_000002.12:g.88691710C>T
NC_000002.11:g.88991228C>T
More... 		06/16/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RPIA
Accession:NM_144563
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRPGPFSTLYGRVLAPLPGRAGGAASGGGGNSWDLPGSHVRLPGRAQSGTRGGAGNTSTSCGDSNSICPAPSTMSKAEE
AKKLAGRAAVENHVRNNQVLGIGSGSTIVHAVQRIAERVKQENLNLVCIPTSFQARQLILQYGLTLSDLDRHPEIDLAID
GADEVDADLNLIKGGGGCLTQEKIVAGYASRFIVIADFRKDSKNLGDQWHKGIPIEVIPMAYVPVSRAVSQKFGGVVELR
MAVNKAGPVVTDNGNFILDWKFDRVHKWSEVNTAIKMIPGVVDTGLFINMAERVYFGMQDGSVNMREKPFC*

Gene Symbol:RPIA
Accession:XM_047443733
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRPGPFSTLYGRVLAPLPGRAGGAASGGGGNSWDLPGSHVRLPGRAQSGTRGGAGNTSTSCGDSNSICPAPSTMSKAEE
AKKLAGRAAVENHVRNNQVLGIGSGSTIVHAVQRIAERVKQENLNLVCIPTSFQARQLILQYGLTLSDLDRHPEIDLAID
GADEVDADLNLIKGGGCEIV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000925199 CLINVAR
dbSNP (RS) rs776563928 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC129934277 CLINVAR
  RPIA CLINVAR
OMIM 180430 CLINVAR