Product Details

SNP ID
rs144895422
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:44961984 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGGTGACCAGCAATGGCAGCATC[A/G]GGAGGGACCCGCCAGCGGAGACCCA
Phenotype
MIM: 604783
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CLPTM1 PubMed Links

Gene Details

Gene
CLPTM1
Gene Name
CLPTM1, transmembrane protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282175.1 139 Missense Mutation AGG,GGG R18G NP_001269104.1
NM_001282176.1 139 UTR 5 NP_001269105.1
NM_001294.3 139 Missense Mutation AGG,GGG R32G NP_001285.1

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