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SNP ID: rs8044695
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:84191361 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCCGCCCAGGCCCAAAGTGCCTGGG[A/G]GCCCGCGCCCGCGCCCGCGACGTAT
Phenotype: MIM: 604905
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: ADAD2 PubMed Links

Gene Details

Gene: ADAD2
Gene Name: adenosine deaminase domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145400.1	245	Missense Mutation	GAG,GGG	E44G	NP_001138872.1
NM_139174.3	245	Missense Mutation	GAG,GGG	E44G	NP_631913.3
XM_005255814.1	245	Missense Mutation	GAG,GGG	E44G	XP_005255871.1
XM_011522919.1	245	Missense Mutation	GAG,GGG	E44G	XP_011521221.1
XM_011522920.1	245	Intron			XP_011521222.1

Gene: TAF1C
Gene Name: TATA-box binding protein associated factor, RNA polymerase I subunit C

There are no transcripts associated with this gene.

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