Product Details

SNP ID

rs2275768

Assay Type

Functionally tested

NCBI dbSNP Submissions

24

Location

Chr.1:215567710 on Build GRCh38

Set Membership

JSNP

Context Sequence [VIC/FAM]

GATGGCGGGAGGGCACTGCGGCAGC[G/T]TCCCCGCGGCGGCGGCCGGCAGCGG

Phenotype

MIM: 613272

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KCTD3 PubMed Links

Gene Details

Gene

KCTD3

Gene Name

potassium channel tetramerization domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319294.1	526	Missense Mutation	GTC,TTC	V9F	NP_001306223.1
NM_001319295.1	526	UTR 5			NP_001306224.1
NM_016121.4	526	Missense Mutation	GTC,TTC	V9F	NP_057205.2
XM_005273158.1	526	UTR 5			XP_005273215.1

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