Product Details

SNP ID
rs200709918
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:23246900 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGAGCCACAGCCGCCGCCAGGGG[G/T]TGGTGCGCCTGCGTCTGCGGGACTT
Phenotype
MIM: 611130
Polymorphism
G/T, 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_001317899.1 779 Intron NP_001304828.1
NM_152272.4 779 Missense Mutation GTG,TTG V69L NP_689485.1
XM_006716415.2 779 Missense Mutation GTG,TTG V69L XP_006716478.1
XM_017013961.1 779 Missense Mutation GTG,TTG V69L XP_016869450.1
XM_017013962.1 779 UTR 5 XP_016869451.1
XM_017013963.1 779 Intron XP_016869452.1
XM_017013964.1 779 UTR 5 XP_016869453.1
XM_017013965.1 779 Intron XP_016869454.1

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