Product Details

SNP ID
rs147453801
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:145938044 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTTCTGCAAACCATGTCTACAGA[G/T]GGTTTTCAAGGCCCACAAAGAGCTG
Phenotype
MIM: 615762 MIM: 613377
Polymorphism
G/T, Transversion 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_152550.3 350 Missense Mutation AGG,ATG R39M NP_689763.3
XM_005268380.2 350 Missense Mutation AGG,ATG R39M XP_005268437.1
XM_006714757.1 350 Missense Mutation AGG,ATG R39M XP_006714820.1
XM_011537567.2 350 Missense Mutation AGG,ATG R39M XP_011535869.1
XM_011537568.2 350 Missense Mutation AGG,ATG R39M XP_011535870.1
XM_011537569.2 350 Missense Mutation AGG,ATG R39M XP_011535871.1
XM_017009136.1 350 Missense Mutation AGG,ATG R39M XP_016864625.1

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