Product Details

SNP ID

rs142607802

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:49693247 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGAGGAACGCAGCGGCCACTGCG[C/T]CGTGGTGGACGGAAACTTCCTCTAC

Phenotype

MIM: 611281 MIM: 602670

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KLHDC1 PubMed Links

Gene Details

Gene

KLHDC1

Gene Name

kelch domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_172193.2	143	Missense Mutation	GCC,GTC	A18V	NP_751943.1
XM_011536422.2	143	Missense Mutation	GCC,GTC	A18V	XP_011534724.1

Gene

POLE2

Gene Name

DNA polymerase epsilon 2, accessory subunit

There are no transcripts associated with this gene.

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