Product Details

SNP ID
rs186815014
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:83939515 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGATCAGTTTACACTTGAGGTCAA[C/T]AATATATGCAACGTATGCGATGAAA
Phenotype
MIM: 611342
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C9orf64 PubMed Links

Gene Details

Gene
C9orf64
Gene Name
chromosome 9 open reading frame 64
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317997.1 1264 Missense Mutation TAT,TGT Y200C NP_001304926.1
NM_032307.4 1264 Missense Mutation TAT,TGT Y341C NP_115683.3
XM_005252271.4 1264 Intron XP_005252328.1

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