Product Details

SNP ID

rs182610890

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:114673952 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTGGGTCATCTGTAGACAGTGAG[A/T]TCATTAGCCCTTTCTGAAGGAAATC

Phenotype

MIM: 102770

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

AMPD1 PubMed Links

Gene Details

Gene

AMPD1

Gene Name

adenosine monophosphate deaminase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000036.2	2078	Missense Mutation	AAC,ATC	N677I	NP_000027.2
NM_001172626.1	2078	Missense Mutation	AAC,ATC	N673I	NP_001166097.1

Gene

DENND2C

Gene Name

DENN domain containing 2C

There are no transcripts associated with this gene.

View Full Product Details