Product Details

SNP ID

rs78500642

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:161099656 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCTTGCAAGGCTTGTGAGCAGTG[G/T]GCAGGGGTCCCAGAAGGGGCCCCAT

Phenotype

MIM: 613466

Polymorphism

G/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	891	Missense Mutation	TGG,TGT	W255C	NP_001007256.1
NM_152366.4	891	Missense Mutation	GGG,GTG	G249V	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	891	Intron			NP_036526.2
XM_011509624.2	891	Intron			XP_011507926.1

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