Product Details

SNP ID

rs200717164

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:114674758 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGAGAGCTTCCAACTCACCTTTTT[A/T]AAATTTAGGCCATGAGAGATATCAT

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	1941	Missense Mutation	TTA,TTT	L631F	NP_000027.2
NM_001172626.1	1941	Missense Mutation	TTA,TTT	L627F	NP_001166097.1

Gene

DENND2C

Gene Name

DENN domain containing 2C

There are no transcripts associated with this gene.

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