Product Details

SNP ID
rs199726653
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:31002225 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTGATCTTTTGAACTTGGCATTGC[C/T]ATTCCGTCGTCAATTGCTGGTCCGT
Phenotype
MIM: 603576
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TRPM1 PubMed Links

Gene Details

Gene
TRPM1
Gene Name
transient receptor potential cation channel subfamily M member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001252020.1 4840 Nonsense Mutation TAG,TGG *1509W NP_001238949.1
NM_001252024.1 4840 Nonsense Mutation TAG,TGG *1492W NP_001238953.1
NM_001252030.1 4840 Intron NP_001238959.1
NM_002420.5 4840 Nonsense Mutation TAG,TGG *1470W NP_002411.3

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