Product Details

SNP ID
rs113786915
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:11852803 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTGCGTAACTGGGAAAAATGCCG[A/G]ATAACTTCCTTTATTATCTGGAAAA
Phenotype
MIM: 606486 MIM: 139312
Polymorphism
A/G, Transition 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 1414 UTR 3 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 1414 Intron NP_001135811.1
NM_001261443.1 1414 Intron NP_001248372.1
NM_001261444.1 1414 Intron NP_001248373.1
NM_182978.3 1414 Intron NP_892023.1
XM_006722324.2 1414 Intron XP_006722387.1

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