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SNP ID

rs10995311

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:62805174 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCGATCGCGACGCGGCTTCTGGC[C/G]CGGAGGCGCCGATGCAGCCGGGCTT

Phenotype

MIM: 611392 MIM: 129010

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ADO PubMed Links

Gene Details

Gene

ADO

Gene Name

2-aminoethanethiol dioxygenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032804.5	419	Missense Mutation	CCG,GCG	P39A	NP_116193.2

Gene

EGR2

Gene Name

early growth response 2

There are no transcripts associated with this gene.

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