Product Details

SNP ID
rs200233798
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:143451083 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAATTTTCTGAAACGCCACAAAA[A/G]GAAATGCATCTTCCTGGGCACGGTC
Phenotype
MIM: 615388 MIM: 603164
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ADAT2 PubMed Links

Gene Details

Gene
ADAT2
Gene Name
adenosine deaminase, tRNA specific 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286259.1 303 Intron NP_001273188.1
NM_182503.2 303 Intron NP_872309.2
XM_011535439.2 303 Intron XP_011533741.1
XM_011535440.1 303 Intron XP_011533742.1
XM_011535443.1 303 Intron XP_011533745.1
XM_011535444.2 303 Intron XP_011533746.1
XM_017010260.1 303 Intron XP_016865749.1
XM_017010261.1 303 Intron XP_016865750.1
XM_017010262.1 303 Intron XP_016865751.1
XM_017010263.1 303 Intron XP_016865752.1
Gene
PEX3
Gene Name
peroxisomal biogenesis factor 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003630.2 303 Missense Mutation AAG,AGG K14R NP_003621.1

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