Product Details

SNP ID
rs200070888
Assay Type
Functionally tested
NCBI dbSNP Submissions
15
Location
Chr.1:44221570 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCCTCGGCCAATCAGAACGGCTT[C/T]GATGTCTGCTTGAAGATGAAGCCTC
Phenotype
MIM: 605077 MIM: 609917
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DMAP1 PubMed Links

Gene Details

Gene
DMAP1
Gene Name
DNA methyltransferase 1 associated protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001034023.1 787 Intron NP_001029195.1
NM_001034024.1 787 Intron NP_001029196.1
NM_019100.4 787 Intron NP_061973.1
XM_005271037.4 787 Intron XP_005271094.1
XM_005271039.1 787 Intron XP_005271096.1
XM_005271040.1 787 Intron XP_005271097.1
XM_006710771.3 787 Intron XP_006710834.1
XM_011541784.2 787 Intron XP_011540086.1
XM_011541785.2 787 Intron XP_011540087.1
XM_017001807.1 787 Intron XP_016857296.1
XM_017001808.1 787 Intron XP_016857297.1
Gene
ERI3
Gene Name
ERI1 exoribonuclease family member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301698.1 787 Silent Mutation TCA,TCG S256S NP_001288627.1
NM_001301699.1 787 Silent Mutation TCA,TCG S256S NP_001288628.1
NM_001301700.1 787 UTR 3 NP_001288629.1
NM_001301701.1 787 Silent Mutation TCA,TCG S157S NP_001288630.1
NM_024066.2 787 Silent Mutation TCA,TCG S334S NP_076971.1
XM_005271186.2 787 UTR 3 XP_005271243.1
XM_006710891.3 787 Silent Mutation TCA,TCG S157S XP_006710954.1
XM_017002301.1 787 Silent Mutation TCA,TCG S332S XP_016857790.1
XM_017002302.1 787 UTR 3 XP_016857791.1
XM_017002303.1 787 Silent Mutation TCA,TCG S256S XP_016857792.1
XM_017002304.1 787 Silent Mutation TCA,TCG S216S XP_016857793.1
XM_017002305.1 787 Silent Mutation TCA,TCG S157S XP_016857794.1
Gene
ERI3-IT1
Gene Name
ERI3 intronic transcript 1
There are no transcripts associated with this gene.

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