Product Details

SNP ID
rs147564168
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24206722 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGCACAGCAAGAGCATCGTGCAC[C/T]GGTGAGGGCGCTGCCACCCAGACTG
Phenotype
MIM: 610051 MIM: 610711
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CHMP4A PubMed Links

Gene Details

Gene
CHMP4A
Gene Name
charged multivesicular body protein 4A
There are no transcripts associated with this gene.

Gene
MDP1
Gene Name
magnesium dependent phosphatase 1
There are no transcripts associated with this gene.

Gene
NEDD8-MDP1
Gene Name
NEDD8-MDP1 readthrough
There are no transcripts associated with this gene.

Gene
TSSK4
Gene Name
testis specific serine kinase 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184739.1 643 Missense Mutation CGC,TGC R147C NP_001171668.1
NM_001308067.1 643 Missense Mutation CGG,TGG R71W NP_001294996.1
NM_174944.3 643 Missense Mutation CGG,TGG R147W NP_777604.2
XM_011536663.2 643 Missense Mutation CGC,TGC R71C XP_011534965.1
XM_017021226.1 643 Missense Mutation CGG,TGG R147W XP_016876715.1

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