Product Details

SNP ID
rs143524150
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:42552598 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACCAAGCTGACAGTGTGCAACTCT[C/T]ATTGGAATGAAACCTCAGAAAAAGA
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SMIM19 PubMed Links

Gene Details

Gene
SMIM19
Gene Name
small integral membrane protein 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135674.1 1070 Missense Mutation TCA,TTA S105L NP_001129146.1
NM_001135675.1 1070 Missense Mutation TCA,TTA S105L NP_001129147.1
NM_001135676.1 1070 Missense Mutation TCA,TTA S105L NP_001129148.1
NM_138436.3 1070 Missense Mutation TCA,TTA S105L NP_612445.2
XM_005273398.4 1070 Missense Mutation TCA,TTA S112L XP_005273455.1

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