Product Details

SNP ID

rs199618172

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:49768579 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCTGAGCGCAGCGGCCACGTAGC[C/T]GTCAGCGACGGGCGCCACATGTTCG

Phenotype

MIM: 611280

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KLHDC2 PubMed Links

Gene Details

Gene

KLHDC2

Gene Name

kelch domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014315.2	991	Silent Mutation	GCC,GCT	A37A	NP_055130.1
XM_006720094.3	991	Silent Mutation	GCC,GCT	A37A	XP_006720157.1
XM_011536610.1	991	Intron			XP_011534912.1

View Full Product Details