Product Details

SNP ID

rs139165394

Assay Type

Functionally Tested

NCBI dbSNP Submissions

1

Location

Chr.1:16023844 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGAAGGTGTTCCGCCTGGGAGAA[G/T]ACTGGTACTTCCTGATGACCCTCGG

Phenotype

MIM: 602024 MIM: 610692

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

CLCNKA PubMed Links

Additional Information

For this assay, SNP(s) [rs1537803] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	225	Missense Mutation	GAC,TAC	D49Y	NP_001036169.1
NM_001257139.1	225	Missense Mutation	GAC,TAC	D49Y	NP_001244068.1
NM_004070.3	225	Missense Mutation	GAC,TAC	D49Y	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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