Product Details

SNP ID

rs145863450

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:44622839 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGGCCCGCTTACCTCGAAGTGC[A/G]TGTTTTCCTGCCGCAGCCTGTTATA

Phenotype

MIM: 608958 MIM: 604932

Polymorphism

A/G, 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	921	Missense Mutation	ACG,ATG	T257M	NP_000013.2
NM_001322050.1	921	Missense Mutation	ACG,ATG	T122M	NP_001308979.1
NM_001322051.1	921	Missense Mutation	ACG,ATG	T233M	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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