Product Details

SNP ID
rs117509514
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:11853216 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTGGAATGTTTTACTTAGCCATG[A/C]AAGTCATTTATGTATACATCCAGCC
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 1827 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 1827 Intron NP_001135811.1
NM_001261443.1 1827 Intron NP_001248372.1
NM_001261444.1 1827 Intron NP_001248373.1
NM_182978.3 1827 Intron NP_892023.1
XM_006722324.2 1827 Intron XP_006722387.1

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