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SNP ID

rs200686073

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:67044824 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGCGGCCCACTTCGGCCTCTGGC[A/G]GATTTGTACCAAGCGCATCCCCATG

Phenotype

MIM: 114209

Polymorphism

A/G, Transition 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	289	Missense Mutation	CAG,CGG	Q55R	NP_000718.1

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