Product Details

SNP ID
rs116818045
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:151338466 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGTTGGATGTTTTAAATGGCCTG[A/G]TGGTCTTCTGGTAGCGATCGATAGT
Phenotype
MIM: 611318 MIM: 600515 MIM: 606380
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MED12L PubMed Links

Gene Details

Gene
MED12L
Gene Name
mediator complex subunit 12 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_053002.5 938 Intron NP_443728.3
XM_006713487.3 938 Intron XP_006713550.1
XM_011512390.2 938 Intron XP_011510692.1
XM_011512394.2 938 Intron XP_011510696.1
XM_011512399.2 938 Intron XP_011510701.1
XM_017005676.1 938 Intron XP_016861165.1
XM_017005677.1 938 Intron XP_016861166.1
XM_017005678.1 938 Intron XP_016861167.1
XM_017005679.1 938 Intron XP_016861168.1
XM_017005680.1 938 Intron XP_016861169.1
XM_017005681.1 938 Intron XP_016861170.1
Gene
P2RY12
Gene Name
purinergic receptor P2Y12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022788.4 938 Missense Mutation ACC,ATC T127I NP_073625.1
NM_176876.2 938 Missense Mutation ACC,ATC T127I NP_795345.1
XM_017007069.1 938 Missense Mutation ACC,ATC T127I XP_016862558.1
Gene
P2RY13
Gene Name
purinergic receptor P2Y13
There are no transcripts associated with this gene.

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