Product Details

SNP ID

rs199979331

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:73241684 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACTAATGGAGGTGACCAGGTCAT[C/T]GTTGGTCAGAGGCTGGCTTCGGACA

Phenotype

MIM: 611688

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KHDC1 PubMed Links

Gene Details

Gene

KHDC1

Gene Name

KH homology domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001251874.1	776	Missense Mutation	AAT,GAT	N187D	NP_001238803.1
NM_030568.4	776	Missense Mutation	AAT,GAT	N114D	NP_085045.3

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