Product Details

SNP ID
rs201909094
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:203439523 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCGCAACGTTGCATAGCCTGATA[C/T]ATGACTGCCTCCGTAACCAGCCTTC
Phenotype
MIM: 606442 MIM: 609035
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ABI2 PubMed Links

Gene Details

Gene
ABI2
Gene Name
abl-interactor 2
There are no transcripts associated with this gene.

Gene
RAPH1
Gene Name
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_203365.3 3748 Intron NP_976241.1
NM_213589.2 3748 Missense Mutation ATA,GTA I1223V NP_998754.1
XM_005246777.3 3748 Missense Mutation ATA,GTA I1275V XP_005246834.1
XM_005246779.4 3748 Missense Mutation ATA,GTA I1275V XP_005246836.1
XM_006712695.3 3748 Missense Mutation ATA,GTA I1275V XP_006712758.1
XM_011511646.2 3748 Missense Mutation ATA,GTA I1275V XP_011509948.1
XM_011511647.1 3748 Missense Mutation ATA,GTA I1250V XP_011509949.1
XM_011511648.1 3748 Missense Mutation ATA,GTA I1248V XP_011509950.1
XM_011511649.2 3748 Intron XP_011509951.1

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