Product Details

SNP ID
rs113024402
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:23246711 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGGTTCCGATGTGGTCCCCGGAG[A/C]GGGAGGCCGAGGCCCCAGCCGGGGG
Phenotype
MIM: 611130
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CHMP7 PubMed Links

Gene Details

Gene
CHMP7
Gene Name
charged multivesicular body protein 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317899.1 97 UTR 5 NP_001304828.1
NM_152272.4 97 Silent Mutation AGG,CGG R6R NP_689485.1
XM_006716415.2 97 Silent Mutation AGG,CGG R6R XP_006716478.1
XM_017013961.1 97 Silent Mutation AGG,CGG R6R XP_016869450.1
XM_017013962.1 97 UTR 5 XP_016869451.1
XM_017013963.1 97 UTR 5 XP_016869452.1
XM_017013964.1 97 UTR 5 XP_016869453.1
XM_017013965.1 97 UTR 5 XP_016869454.1

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