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SNP ID

rs141758489

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:16023820 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAGGTGGCCTGGAGTGGCTAAAG[A/C]AGAAGGTGTTCCGCCTGGGAGAAGA

Phenotype

MIM: 602024 MIM: 610692

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CLCNKA PubMed Links

Gene Details

Gene

CLCNKA

Gene Name

chloride voltage-gated channel Ka

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042704.1	201	Missense Mutation	AAG,CAG	K41Q	NP_001036169.1
NM_001257139.1	201	Missense Mutation	AAG,CAG	K41Q	NP_001244068.1
NM_004070.3	201	Missense Mutation	AAG,CAG	K41Q	NP_004061.3

Gene

HSPB7

Gene Name

heat shock protein family B (small) member 7

There are no transcripts associated with this gene.

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