Product Details

SNP ID

rs150645315

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:66552755 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGAAAATAAAACATCGCCCCTTC[A/T]GCTTCAGTGTGAAAGGCCACGTGAA

Phenotype

MIM: 616074 MIM: 188250

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CKLF PubMed Links

Gene Details

Gene

CKLF

Gene Name

chemokine-like factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040138.2	193	Missense Mutation	AGC,TGC	S14C	NP_001035228.1
NM_016326.3	193	Missense Mutation	AGC,TGC	S14C	NP_057410.1
NM_016951.3	193	Missense Mutation	AGC,TGC	S14C	NP_058647.1
NM_181640.2	193	Missense Mutation	AGC,TGC	S14C	NP_857591.1
NM_181641.2	193	Missense Mutation	AGC,TGC	S14C	NP_857592.1

Gene

CKLF-CMTM1

Gene Name

CKLF-CMTM1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202509.1	193	Missense Mutation	AGC,TGC	S14C	NP_001189438.1
NM_001204098.1	193	Missense Mutation	AGC,TGC	S14C	NP_001191027.1
NM_001204099.1	193	Missense Mutation	AGC,TGC	S14C	NP_001191028.1

Gene

TK2

Gene Name

thymidine kinase 2, mitochondrial

There are no transcripts associated with this gene.

View Full Product Details