Product Details

SNP ID
rs201948249
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24206112 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATCTCAAAGAAGAAGGCCTCTGA[G/T]GACTATCTTAACAAGTTCCTGCCCC
Phenotype
MIM: 610051 MIM: 610711
Polymorphism
G/T, Transversion 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_001184739.1 393 Missense Mutation GAG,GAT E63D NP_001171668.1
NM_001308067.1 393 Intron NP_001294996.1
NM_174944.3 393 Missense Mutation GAG,GAT E63D NP_777604.2
XM_011536663.2 393 Intron XP_011534965.1
XM_017021226.1 393 Missense Mutation GAG,GAT E63D XP_016876715.1

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