Product Details

SNP ID
rs16976750
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:11851481 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CTCTGCCTTCGGCGCGCTTCTCAGC[A/C]GGGCCGCCGACCCAAAGGAGCCGTC
Phenotype
MIM: 606486 MIM: 139312
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CHMP1B PubMed Links

Gene Details

Gene
CHMP1B
Gene Name
charged multivesicular body protein 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020412.4 92 UTR 5 NP_065145.2
Gene
GNAL
Gene Name
G protein subunit alpha L
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142339.2 92 Intron NP_001135811.1
NM_001261443.1 92 Intron NP_001248372.1
NM_001261444.1 92 Intron NP_001248373.1
NM_182978.3 92 Intron NP_892023.1
XM_006722324.2 92 Intron XP_006722387.1

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