Product Details

SNP ID

rs200575329

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:66633381 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTTGGCAGCCATGTTCAGTGGGC[A/G]GCACTACATCCCCACGGACTCCGAG

Phenotype

MIM: 611725

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KCTD7 PubMed Links

Gene Details

Gene

KCTD7

Gene Name

potassium channel tetramerization domain containing 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167961.2	435	Missense Mutation	CAG,CGG	Q84R	NP_001161433.1
NM_153033.4	435	Missense Mutation	CAG,CGG	Q84R	NP_694578.1

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