Product Details

SNP ID

rs79217841

Assay Type

Functionally tested

NCBI dbSNP Submissions

9

Location

Chr.1:205336631 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGAGAGGGTTTCACACAGAAACA[C/T]TCTGGGGGCCTTCGGTGACAAAAGG

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	2365	UTR 3			NP_001258792.1
NM_001271864.1	2365	UTR 3			NP_001258793.1
NM_001271865.1	2365	UTR 3			NP_001258794.1
NM_018203.2	2365	UTR 3			NP_060673.1

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