Product Details

SNP ID
rs140100102
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:9207196 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTCCAGCTTCACCACCCGCACGG[C/T]GCAGTGCCGGAACACTGTGGCGGCC
Phenotype
MIM: 603817
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ASAP2 PubMed Links

Gene Details

Gene
ASAP2
Gene Name
ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135191.1 174 Missense Mutation GCG,GTG A31V NP_001128663.1
NM_003887.2 174 Missense Mutation GCG,GTG A31V NP_003878.1
XM_006711898.1 174 Missense Mutation GCG,GTG A31V XP_006711961.1
XM_006711901.3 174 Intron XP_006711964.1
XM_006711902.1 174 Missense Mutation GCG,GTG A31V XP_006711965.1
XM_011510403.2 174 Missense Mutation GCG,GTG A31V XP_011508705.1
XM_011510404.2 174 Missense Mutation GCG,GTG A31V XP_011508706.1
XM_011510405.2 174 Missense Mutation GCG,GTG A31V XP_011508707.1
XM_011510406.2 174 UTR 5 XP_011508708.1
XM_011510407.2 174 Missense Mutation GCG,GTG A31V XP_011508709.1
XM_011510408.2 174 Missense Mutation GCG,GTG A31V XP_011508710.1
XM_011510409.1 174 Intron XP_011508711.1

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