Product Details

SNP ID
rs147818011
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:58562434 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTCGCCGGTGTGTGTCCTCTGAT[A/G]ACGCGTGAGCTTGAGGCGCTGGCTG
Phenotype
MIM: 610893 MIM: 194550 MIM: 603173
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CHMP2A PubMed Links

Gene Details

Gene
CHMP2A
Gene Name
charged multivesicular body protein 2A
There are no transcripts associated with this gene.

Gene
MZF1
Gene Name
myeloid zinc finger 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267033.1 2759 UTR 3 NP_001253962.1
NM_003422.2 2759 Missense Mutation NP_003413.2
NM_198055.1 2759 Missense Mutation NP_932172.1
XM_005259204.3 2759 Missense Mutation XP_005259261.1
XM_011527264.2 2759 Missense Mutation XP_011525566.1
XM_017027206.1 2759 Missense Mutation XP_016882695.1
Gene
MZF1-AS1
Gene Name
MZF1 antisense RNA 1
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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