Product Details

SNP ID

rs148003311

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:44214823 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCATTCACCAACCCGGCCCGCAA[A/G]GACGGAGCAATGTTCTTCCACTGGC

Phenotype

MIM: 605077 MIM: 609917

Polymorphism

A/G, 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	443	Silent Mutation	AAA,AAG	K106K	NP_001029195.1
NM_001034024.1	443	Silent Mutation	AAA,AAG	K106K	NP_001029196.1
NM_019100.4	443	Silent Mutation	AAA,AAG	K106K	NP_061973.1
XM_005271037.4	443	Silent Mutation	AAA,AAG	K106K	XP_005271094.1
XM_005271039.1	443	Silent Mutation	AAA,AAG	K106K	XP_005271096.1
XM_005271040.1	443	Silent Mutation	AAA,AAG	K106K	XP_005271097.1
XM_006710771.3	443	Silent Mutation	AAA,AAG	K58K	XP_006710834.1
XM_011541784.2	443	Silent Mutation	AAA,AAG	K106K	XP_011540086.1
XM_011541785.2	443	Silent Mutation	AAA,AAG	K106K	XP_011540087.1
XM_017001807.1	443	Silent Mutation	AAA,AAG	K106K	XP_016857296.1
XM_017001808.1	443	Silent Mutation	AAA,AAG	K106K	XP_016857297.1

Gene

ERI3

Gene Name

ERI1 exoribonuclease family member 3

There are no transcripts associated with this gene.

Gene

ERI3-IT1

Gene Name

ERI3 intronic transcript 1

There are no transcripts associated with this gene.

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