Product Details

SNP ID

rs10127895

Assay Type

Functionally tested

NCBI dbSNP Submissions

36

Location

Chr.1:205337567 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCTTCCCTGGGTGGAATGCTTCCGC[C/T]GTCTCCAGGACAGTGGGTTGATTCC

Phenotype

MIM: 614503

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KLHDC8A PubMed Links

Gene Details

Gene

KLHDC8A

Gene Name

kelch domain containing 8A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271863.1	1429	Silent Mutation	ACA,ACG	T295T	NP_001258792.1
NM_001271864.1	1429	Silent Mutation	ACA,ACG	T295T	NP_001258793.1
NM_001271865.1	1429	Silent Mutation	ACA,ACG	T295T	NP_001258794.1
NM_018203.2	1429	Silent Mutation	ACA,ACG	T295T	NP_060673.1

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