Product Details

SNP ID

rs121908738

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:44622612 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGAATGACTGCATGCTCCGTGTCC[A/G]GCTTCCAGGCACCAGTGAGGTAGCT

Phenotype

MIM: 608958 MIM: 604932

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ADA PubMed Links

Additional Information

For this assay, SNP(s) [rs116962828] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ADA

Gene Name

adenosine deaminase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000022.3	972	Missense Mutation	CCG,CTG	P274L	NP_000013.2
NM_001322050.1	972	Missense Mutation	CCG,CTG	P139L	NP_001308979.1
NM_001322051.1	972	Missense Mutation	CCG,CTG	P250L	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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