Product Details

SNP ID
rs146728315
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:100550402 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACACCTTCATTCTTTTAGGTTTGC[C/T]GGAAGATTTGGTTGGGTCTGTTTGA
Phenotype
MIM: 604019
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AGFG2 PubMed Links

Gene Details

Gene
AGFG2
Gene Name
ArfGAP with FG repeats 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006076.4 444 Missense Mutation CGG,TGG R108W NP_006067.3
XM_005250306.2 444 Missense Mutation CGG,TGG R108W XP_005250363.1
XM_017012112.1 444 Missense Mutation CGG,TGG R21W XP_016867601.1
XM_017012113.1 444 Missense Mutation CGG,TGG R108W XP_016867602.1
XM_017012114.1 444 UTR 5 XP_016867603.1

View Full Product Details