Product Details

SNP ID
rs201397178
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:136850099 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCGGCGGGCGCATCTCCCACCAG[A/T]GTCAGGACAAGAAGATTCACGTGTA
Phenotype
MIM: 610167 MIM: 610615
Polymorphism
A/T, Transversion 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_001135861.2 862 Missense Mutation AGT,TGT S83C NP_001129333.1
NM_001287342.1 862 Missense Mutation AGT,TGT S85C NP_001274271.1
NM_001287343.1 862 Missense Mutation AGT,TGT S83C NP_001274272.1
NM_014172.5 862 Missense Mutation AGT,TGT S83C 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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