Product Details

SNP ID
rs2229255
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:58562955 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGCTCTGGCCGCACTCAGCGCAA[C/G]GGAAAGGCTGTTCGCCCGTGTGCAC
Phenotype
MIM: 610893 MIM: 194550 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
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 2238 UTR 3 NP_001253962.1
NM_003422.2 2238 Missense Mutation CCT,CGT P441R NP_003413.2
NM_198055.1 2238 Missense Mutation CCT,CGT P441R NP_932172.1
XM_005259204.3 2238 Missense Mutation CCT,CGT P482R XP_005259261.1
XM_011527264.2 2238 Missense Mutation CCT,CGT P471R XP_011525566.1
XM_017027206.1 2238 Missense Mutation CCT,CGT P157R 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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