Product Details

SNP ID
rs281865139
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:62813478 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCACCGGTGTGGGTGCGGATATGG[T/G]TGGTGAGGTGGTCACTGCGGCTGAA
Phenotype
MIM: 611392 MIM: 129010
Polymorphism
T/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 1369 Missense Mutation AAC,ACC N387T NP_000390.2
NM_001136177.2 1369 Missense Mutation AAC,ACC N387T NP_001129649.1
NM_001136178.1 1369 Missense Mutation AAC,ACC N387T NP_001129650.1
NM_001136179.2 1369 Missense Mutation AAC,ACC N337T NP_001129651.1
NM_001321037.1 1369 Missense Mutation AAC,ACC N337T NP_001307966.1
XM_011539427.1 1369 Missense Mutation AAC,ACC N400T XP_011537729.1

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