Product Details

SNP ID

rs139697674

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:66566571 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGGCACCTTCAGGGAACTTGAAA[C/G]AACCGGAGACTGCCGCAGCCCTGGC

Phenotype

MIM: 616074 MIM: 607884

Polymorphism

C/G, 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	181	Intron			NP_001035228.1
NM_016326.3	181	Intron			NP_057410.1
NM_016951.3	181	Intron			NP_058647.1
NM_181640.2	181	Intron			NP_857591.1
NM_181641.2	181	Intron			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	181	Intron			NP_001189438.1
NM_001204098.1	181	Intron			NP_001191027.1
NM_001204099.1	181	Intron			NP_001191028.1

Gene

CMTM1

Gene Name

CKLF like MARVEL transmembrane domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052999.3	181	Missense Mutation	CAA,GAA	Q20E	NP_443725.3
NM_181268.2	181	Missense Mutation	CAA,GAA	Q20E	NP_851785.2
NM_181269.2	181	Missense Mutation	CAA,GAA	Q20E	NP_851786.1
NM_181270.2	181	Missense Mutation	CAA,GAA	Q20E	NP_851787.1
NM_181271.2	181	Missense Mutation	CAA,GAA	Q20E	NP_851788.1
NM_181272.2	181	Missense Mutation	CAA,GAA	Q20E	NP_851789.1
NM_181283.2	181	Missense Mutation	CAA,GAA	Q20E	NP_851800.1
NM_181296.2	181	Missense Mutation	CAA,GAA	Q20E	NP_851813.1

View Full Product Details