Product Details

SNP ID
rs146251309
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:58563240 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTAACCACCCCGCCCCCAGTGCTG[A/G]GGCGGCCCCGGCTCCGGCCCCTGGG
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 1953 Missense Mutation CCA,TCA P265S NP_001253962.1
NM_003422.2 1953 Missense Mutation CCC,CTC P346L NP_003413.2
NM_198055.1 1953 Missense Mutation CCC,CTC P346L NP_932172.1
XM_005259204.3 1953 Missense Mutation CCC,CTC P387L XP_005259261.1
XM_011527264.2 1953 Missense Mutation CCC,CTC P376L XP_011525566.1
XM_017027206.1 1953 Missense Mutation CCC,CTC P62L 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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