Product Details

SNP ID
rs201753098
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:130130077 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTTGCCGTAGTCCTCCCCCTGGA[C/T]GGGAGCCTGTGGAACTGCCGGGGTG
Phenotype
MIM: 300169 MIM: 310490 MIM: 300333
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AIFM1 PubMed Links

Gene Details

Gene
AIFM1
Gene Name
apoptosis inducing factor, mitochondria associated 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130846.3 1882 Missense Mutation ATC,GTC I216V NP_001124318.2
NM_001130847.3 1882 UTR 3 NP_001124319.1
NM_004208.3 1882 Missense Mutation ATC,GTC I555V NP_004199.1
NM_145812.2 1882 Missense Mutation ATC,GTC I551V NP_665811.1
Gene
RAB33A
Gene Name
RAB33A, member RAS oncogene family
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004794.2 1882 Intron NP_004785.1
XM_017029963.1 1882 Intron XP_016885452.1

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