Product Details

SNP ID
rs139628387
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:91216065 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGTGATTGCATTACATACCTGAGC[A/G]TAACAAGCTTCTTCTATGGCTAACC
Phenotype
MIM: 600529
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AUH PubMed Links

Gene Details

Gene
AUH
Gene Name
AU RNA binding protein/enoyl-CoA hydratase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001306190.1 1040 Silent Mutation TAC,TAT Y283Y NP_001293119.1
NM_001698.2 1040 Silent Mutation TAC,TAT Y312Y NP_001689.1
XM_005252066.3 1040 Silent Mutation TAC,TAT Y322Y XP_005252123.1
XM_005252067.4 1040 Intron XP_005252124.1
XM_005252069.4 1040 Intron XP_005252126.1
XM_005252072.2 1040 Intron XP_005252129.1
XM_006717150.3 1040 Silent Mutation TAC,TAT Y293Y XP_006717213.1
XM_011518800.2 1040 Intron XP_011517102.1
XM_011518802.2 1040 Silent Mutation TAC,TAT Y203Y XP_011517104.1
XM_011518803.2 1040 Intron XP_011517105.1
XM_011518804.2 1040 Intron XP_011517106.1
XM_017014849.1 1040 Intron XP_016870338.1
XM_017014850.1 1040 Silent Mutation TAC,TAT Y203Y XP_016870339.1
XM_017014851.1 1040 Intron XP_016870340.1

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