Product Details

SNP ID
rs200465412
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:83944879 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGAGGTAATCTATAATCAGCAAA[C/G]ATGGTGATACTGGAGATGTCCTTGA
Phenotype
MIM: 611342
Polymorphism
C/G, Transversion 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_001317997.1 950 Missense Mutation ATC,ATG I95M NP_001304926.1
NM_032307.4 950 Missense Mutation ATC,ATG I236M NP_115683.3
XM_005252271.4 950 Intron XP_005252328.1

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