Product Details

SNP ID
rs146703596
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:136850775 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGGCCTATGGTCCTGCCCAGCA[C/T]GCCATTTCAACTGAGAAAATCAAAG
Phenotype
MIM: 610167 MIM: 610615
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C9orf172 PubMed Links

Gene Details

Gene
C9orf172
Gene Name
chromosome 9 open reading frame 172
There are no transcripts associated with this gene.

Gene
MAMDC4
Gene Name
MAM domain containing 4
There are no transcripts associated with this gene.

Gene
PHPT1
Gene Name
phosphohistidine phosphatase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135861.2 976 Missense Mutation CGC,TGC R121C NP_001129333.1
NM_001287342.1 976 Silent Mutation CAC,CAT H104H NP_001274271.1
NM_001287343.1 976 Missense Mutation CGC,TGC R122C NP_001274272.1
NM_014172.5 976 Silent Mutation CAC,CAT H102H NP_054891.2
Gene
RABL6
Gene Name
RAB, member RAS oncogene family-like 6
There are no transcripts associated with this gene.

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