Product Details

SNP ID

rs202046182

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:67044821 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCGAGGCGGCCCACTTCGGCCTCT[G/T]GCGGATTTGTACCAAGCGCATCCCC

Phenotype

MIM: 114209

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CACNG1 PubMed Links

Gene Details

Gene

CACNG1

Gene Name

calcium voltage-gated channel auxiliary subunit gamma 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000727.3	286	Missense Mutation	TGG,TTG	W54L	NP_000718.1

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