Product Details

SNP ID

rs144116304

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:161099761 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGAAACTCTGACCAGAGCTAGAG[A/T]CACCATCTGCAATGATCTCTACATC

Phenotype

MIM: 613466

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

KLHDC9 PubMed Links

Gene Details

Gene

KLHDC9

Gene Name

kelch domain containing 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007255.2	996	UTR 3			NP_001007256.1
NM_152366.4	996	Missense Mutation	GAC,GTC	D284V	NP_689579.3

Gene

PFDN2

Gene Name

prefoldin subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012394.3	996	Intron			NP_036526.2
XM_011509624.2	996	Intron			XP_011507926.1

View Full Product Details