Product Details

SNP ID
rs185926577
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:93318549 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACATGCCCCCCATGCCAGTGGGCT[A/G]CTGTGAGTGAGGATAAGGTGTGTGT
Phenotype
MIM: 606249
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C9orf129 PubMed Links

Gene Details

Gene
C9orf129
Gene Name
chromosome 9 open reading frame 129
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098808.1 804 Missense Mutation GCA,GTA A147V NP_001092278.1
XM_006717117.3 804 Missense Mutation GCA,GTA A147V XP_006717180.1
Gene
WNK2
Gene Name
WNK lysine deficient protein kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282394.1 804 UTR 3 NP_001269323.1
NM_006648.3 804 Intron NP_006639.3
XM_005252137.3 804 UTR 3 XP_005252194.1
XM_005252140.2 804 UTR 3 XP_005252197.1
XM_005252141.2 804 Intron XP_005252198.1
XM_005252144.2 804 Intron XP_005252201.1
XM_011518926.2 804 UTR 3 XP_011517228.1
XM_011518927.2 804 UTR 3 XP_011517229.1
XM_011518928.2 804 UTR 3 XP_011517230.1
XM_011518929.2 804 UTR 3 XP_011517231.1
XM_011518930.2 804 UTR 3 XP_011517232.1
XM_011518931.2 804 UTR 3 XP_011517233.1
XM_011518932.2 804 UTR 3 XP_011517234.1
XM_011518935.2 804 UTR 3 XP_011517237.1
XM_011518936.2 804 UTR 3 XP_011517238.1
XM_011518937.2 804 UTR 3 XP_011517239.1
XM_011518939.2 804 UTR 3 XP_011517241.1
XM_011518940.2 804 UTR 3 XP_011517242.1
XM_017015045.1 804 UTR 3 XP_016870534.1
XM_017015046.1 804 UTR 3 XP_016870535.1
XM_017015047.1 804 UTR 3 XP_016870536.1
XM_017015048.1 804 UTR 3 XP_016870537.1
XM_017015049.1 804 UTR 3 XP_016870538.1
XM_017015050.1 804 UTR 3 XP_016870539.1
XM_017015051.1 804 UTR 3 XP_016870540.1
XM_017015052.1 804 UTR 3 XP_016870541.1
XM_017015053.1 804 UTR 3 XP_016870542.1
XM_017015054.1 804 UTR 3 XP_016870543.1
XM_017015055.1 804 UTR 3 XP_016870544.1

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