Product Details

SNP ID
rs142020304
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:58551934 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGCTCATCTGTTAGGCTAAGTCC[C/G]AGCTCATCCAGAACCTGGGACACCA
Phenotype
MIM: 610893 MIM: 194550 MIM: 601742 MIM: 603173
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
CHMP2A PubMed Links

Gene Details

Gene
CHMP2A
Gene Name
charged multivesicular body protein 2A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014453.3 1297 Silent Mutation CTC,CTG L171L NP_055268.1
NM_198426.2 1297 Silent Mutation CTC,CTG L171L NP_940818.1
XM_005258746.2 1297 Silent Mutation CTC,CTG L171L XP_005258803.1
XM_005258747.3 1297 Silent Mutation CTC,CTG L171L XP_005258804.1
Gene
MIR6807
Gene Name
microRNA 6807
There are no transcripts associated with this gene.

Gene
MZF1
Gene Name
myeloid zinc finger 1
There are no transcripts associated with this gene.

Gene
MZF1-AS1
Gene Name
MZF1 antisense RNA 1
There are no transcripts associated with this gene.

Gene
TRIM28
Gene Name
tripartite motif containing 28
There are no transcripts associated with this gene.

Gene
UBE2M
Gene Name
ubiquitin conjugating enzyme E2 M
There are no transcripts associated with this gene.

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