Product Details

SNP ID

rs201094088

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:161099711 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACGGCATCACTCATGTTCTGTGGT[C/T]GGGCCCTTTGCTGTGCTGTTTGGTG

Phenotype

MIM: 613466

Polymorphism

C/T, Transition 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	946	Missense Mutation	CGG,TGG	R274W	NP_001007256.1
NM_152366.4	946	Silent Mutation	GTC,GTT	V267V	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	946	Intron			NP_036526.2
XM_011509624.2	946	Intron			XP_011507926.1

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