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SNP ID

rs140957303

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:114675992 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAATGTGGAAGGAAATTCTTGGAA[C/T]GGAACACATCACTAGAGGCAAGAAT

Phenotype

MIM: 102770

Polymorphism

C/T, Transition 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	1547	Missense Mutation	CCT,CTT	P500L	NP_000027.2
NM_001172626.1	1547	Missense Mutation	CCT,CTT	P496L	NP_001166097.1

Gene

DENND2C

Gene Name

DENN domain containing 2C

There are no transcripts associated with this gene.

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