Product Details

SNP ID
rs200543681
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:130129620 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGATCTTCATGCTGCTCACCGTC[C/T]TTAATGATCTGAGGGAGAGAGAGTA
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 1998 Silent Mutation AAA,AAG K254K NP_001124318.2
NM_001130847.3 1998 UTR 3 NP_001124319.1
NM_004208.3 1998 Silent Mutation AAA,AAG K593K NP_004199.1
NM_145812.2 1998 Silent Mutation AAA,AAG K589K 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 1998 Intron NP_004785.1
XM_017029963.1 1998 Intron XP_016885452.1

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