Product Details

SNP ID
rs114738990
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:35043147 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGATCCTTCCCCATCTTCCAGATTC[C/T]GACCAGCTTTCCTGTGAGGCACAAG
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C9orf131 PubMed Links

Gene Details

Gene
C9orf131
Gene Name
chromosome 9 open reading frame 131
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040410.2 349 Missense Mutation CCG,CTG P138L NP_001035500.1
NM_001040411.2 349 Missense Mutation CCG,CTG P100L NP_001035501.1
NM_001040412.2 349 Missense Mutation CCG,CTG P125L NP_001035502.1
NM_001287391.1 349 Missense Mutation CCG,CTG P100L NP_001274320.1
NM_203299.3 349 Missense Mutation CCG,CTG P173L NP_976044.2

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