Product Details

SNP ID
rs192421657
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:135485262 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAAAATGTGATGGGTCAGTGGAGA[A/G]GAAACCAGACACAAATGAAAATTCC
Phenotype
MIM: 614502 MIM: 614056
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C9orf116 PubMed Links

Gene Details

Gene
C9orf116
Gene Name
chromosome 9 open reading frame 116
There are no transcripts associated with this gene.

Gene
PPP1R26
Gene Name
protein phosphatase 1 regulatory subunit 26
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014811.3 1583 Intron NP_055626.3
XM_005263411.2 1583 Intron XP_005263468.1
XM_017015355.1 1583 Missense Mutation AAG,AGG K251R XP_016870844.1
XM_017015356.1 1583 Missense Mutation AAG,AGG K251R XP_016870845.1
XM_017015357.1 1583 Missense Mutation AAG,AGG K251R XP_016870846.1
XM_017015358.1 1583 Missense Mutation AAG,AGG K251R XP_016870847.1
XM_017015359.1 1583 Missense Mutation AAG,AGG K251R XP_016870848.1
XM_017015360.1 1583 Missense Mutation AAG,AGG K251R XP_016870849.1
XM_017015361.1 1583 Missense Mutation AAG,AGG K251R XP_016870850.1
XM_017015362.1 1583 Missense Mutation AAG,AGG K251R XP_016870851.1

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