Product Details

SNP ID

rs142165599

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:753879 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCTTCCTCTTTCCCTGCCCCAGC[C/G]CAGCATCCCCGCGGCTGTCCCGCAG

Phenotype

MIM: 605232

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

WNK1 PubMed Links

Gene Details

Gene

WNK1

Gene Name

WNK lysine deficient protein kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184985.1	1282	Missense Mutation	CCC,CGC	P105R	NP_001171914.1
NM_014823.2	1282	Missense Mutation	CCC,CGC	P105R	NP_055638.2
NM_018979.3	1282	Missense Mutation	CCC,CGC	P105R	NP_061852.3
NM_213655.4	1282	Missense Mutation	CCC,CGC	P105R	NP_998820.3
XM_006719003.2	1282	Missense Mutation	CCC,CGC	P105R	XP_006719066.1
XM_011520997.2	1282	Missense Mutation	CCC,CGC	P105R	XP_011519299.1
XM_011520998.2	1282	Missense Mutation	CCC,CGC	P105R	XP_011519300.1
XM_011520999.2	1282	Missense Mutation	CCC,CGC	P105R	XP_011519301.1
XM_011521000.2	1282	Missense Mutation	CCC,CGC	P105R	XP_011519302.1
XM_011521001.2	1282	Missense Mutation	CCC,CGC	P105R	XP_011519303.1
XM_011521002.2	1282	Missense Mutation	CCC,CGC	P105R	XP_011519304.1
XM_011521003.2	1282	Missense Mutation	CCC,CGC	P105R	XP_011519305.1
XM_011521004.2	1282	Missense Mutation	CCC,CGC	P105R	XP_011519306.1
XM_011521005.2	1282	Intron			XP_011519307.1
XM_011521006.2	1282	Missense Mutation	CCC,CGC	P105R	XP_011519308.1
XM_011521007.2	1282	Missense Mutation	CCC,CGC	P105R	XP_011519309.1
XM_011521008.2	1282	Missense Mutation	CCC,CGC	P105R	XP_011519310.1
XM_011521009.2	1282	Missense Mutation	CCC,CGC	P105R	XP_011519311.1
XM_017019834.1	1282	Missense Mutation	CCC,CGC	P105R	XP_016875323.1
XM_017019835.1	1282	Missense Mutation	CCC,CGC	P105R	XP_016875324.1
XM_017019836.1	1282	Missense Mutation	CCC,CGC	P105R	XP_016875325.1
XM_017019837.1	1282	Missense Mutation	CCC,CGC	P105R	XP_016875326.1
XM_017019838.1	1282	Missense Mutation	CCC,CGC	P105R	XP_016875327.1
XM_017019839.1	1282	Missense Mutation	CCC,CGC	P105R	XP_016875328.1

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