Product Details

SNP ID
rs141709130
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:145937945 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAAATAAAATGGATGATTTGACGT[C/T]ACTTGATCTTCTGGAGTGCCCTGTG
Phenotype
MIM: 615762 MIM: 613377
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GRXCR2 PubMed Links

Gene Details

Gene
GRXCR2
Gene Name
glutaredoxin and cysteine rich domain containing 2
There are no transcripts associated with this gene.

Gene
SH3RF2
Gene Name
SH3 domain containing ring finger 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152550.3 251 Missense Mutation TCA,TTA S6L NP_689763.3
XM_005268380.2 251 Missense Mutation TCA,TTA S6L XP_005268437.1
XM_006714757.1 251 Missense Mutation TCA,TTA S6L XP_006714820.1
XM_011537567.2 251 Missense Mutation TCA,TTA S6L XP_011535869.1
XM_011537568.2 251 Missense Mutation TCA,TTA S6L XP_011535870.1
XM_011537569.2 251 Missense Mutation TCA,TTA S6L XP_011535871.1
XM_017009136.1 251 Missense Mutation TCA,TTA S6L XP_016864625.1

View Full Product Details