Product Details

SNP ID

rs7512414

Assay Type

Functionally tested

NCBI dbSNP Submissions

44

Location

Chr.1:18481042 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTTGGATATGCAGCTGACCGGCAAG[G/T]TGGTGCTGTCAGCCGCTGCCCTGCT

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KLHDC7A PubMed Links

Gene Details

Gene

KLHDC7A

Gene Name

kelch domain containing 7A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152375.2	113	Missense Mutation	GTG,TTG	V21L	NP_689588.2

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