Product Details

SNP ID

rs200321023

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:66633323 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCGGAGGGGCTCACTTCACTACA[C/T]GCCTGTCCACACTGCGGTGCTACGA

Phenotype

MIM: 611725

Polymorphism

C/T, 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	377	Missense Mutation	CGC,TGC	R65C	NP_001161433.1
NM_153033.4	377	Missense Mutation	CGC,TGC	R65C	NP_694578.1

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