Product Details

SNP ID

rs145924854

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:44621063 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTAAAGCCCATGTCCCGTTTGGT[C/T]ATCTGGTAATCAGTGTCCAGGGTGG

Phenotype

MIM: 608958 MIM: 604932

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ADA PubMed Links

Gene Details

Gene

ADA

Gene Name

adenosine deaminase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000022.3	1081	Missense Mutation	ATA,ATG	I310M	NP_000013.2
NM_001322050.1	1081	Missense Mutation	ATA,ATG	I175M	NP_001308979.1
NM_001322051.1	1081	Missense Mutation	ATA,ATG	I286M	NP_001308980.1

Gene

PKIG

Gene Name

protein kinase (cAMP-dependent, catalytic) inhibitor gamma

There are no transcripts associated with this gene.

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