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SNP ID

rs144653507

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:84191246 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTGGCGGCCATGGCTTCGGCTTCT[C/G]AGGGCGCTGACGACGACGGCAGTCG

Phenotype

MIM: 604905

Polymorphism

C/G, Transversion 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	130	Missense Mutation	CAG,GAG	Q6E	NP_001138872.1
NM_139174.3	130	Missense Mutation	CAG,GAG	Q6E	NP_631913.3
XM_005255814.1	130	Missense Mutation	CAG,GAG	Q6E	XP_005255871.1
XM_011522919.1	130	Missense Mutation	CAG,GAG	Q6E	XP_011521221.1
XM_011522920.1	130	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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