Product Details

SNP ID: rs200227017
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:66579772 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGCCATCGGACAAACCTCAAAAGGC[A/G]GTGCAGCCCAAGCACGAAGTGGGCA
Phenotype: MIM: 607884 MIM: 607885
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CKLF-CMTM1 PubMed Links

Gene Details

Gene: CKLF-CMTM1
Gene Name: CKLF-CMTM1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202509.1	325	Intron			NP_001189438.1
NM_001204098.1	325	Intron			NP_001191027.1
NM_001204099.1	325	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	325	Intron			NP_443725.3
NM_181268.2	325	Intron			NP_851785.2
NM_181269.2	325	Intron			NP_851786.1
NM_181270.2	325	Intron			NP_851787.1
NM_181271.2	325	Intron			NP_851788.1
NM_181272.2	325	Intron			NP_851789.1
NM_181283.2	325	Intron			NP_851800.1
NM_181296.2	325	Intron			NP_851813.1

Gene: CMTM2
Gene Name: CKLF like MARVEL transmembrane domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199317.1	325	Silent Mutation	GCA,GCG	A55A	NP_001186246.1
NM_144673.2	325	Silent Mutation	GCA,GCG	A55A	NP_653274.1

View Full Product Details