Product Details

SNP ID

rs146116229

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:62813239 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCGGGTCCGAGAGGAGCAAGGGG[C/G]GAGCGGCCCTCCGCCAAGACTGCTG

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

There are no transcripts associated with this gene.

Gene

EGR2

Gene Name

early growth response 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000399.4	1608	Missense Mutation	CCC,GCC	P467A	NP_000390.2
NM_001136177.2	1608	Missense Mutation	CCC,GCC	P467A	NP_001129649.1
NM_001136178.1	1608	Missense Mutation	CCC,GCC	P467A	NP_001129650.1
NM_001136179.2	1608	Missense Mutation	CCC,GCC	P417A	NP_001129651.1
NM_001321037.1	1608	Missense Mutation	CCC,GCC	P417A	NP_001307966.1
XM_011539427.1	1608	Missense Mutation	CCC,GCC	P480A	XP_011537729.1

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