Product Details

SNP ID

rs181775983

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:151337878 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTTCTTTTTTCCTATTGTCCTGG[A/G]ACAGAGATGTTGCAGAATTGGGGCA

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	1526	Intron			NP_443728.3
XM_006713487.3	1526	Intron			XP_006713550.1
XM_011512390.2	1526	Intron			XP_011510692.1
XM_011512394.2	1526	Intron			XP_011510696.1
XM_011512399.2	1526	Intron			XP_011510701.1
XM_017005676.1	1526	Intron			XP_016861165.1
XM_017005677.1	1526	Intron			XP_016861166.1
XM_017005678.1	1526	Intron			XP_016861167.1
XM_017005679.1	1526	Intron			XP_016861168.1
XM_017005680.1	1526	Intron			XP_016861169.1
XM_017005681.1	1526	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	1526	Missense Mutation	TCC,TTC	S323F	NP_073625.1
NM_176876.2	1526	Missense Mutation	TCC,TTC	S323F	NP_795345.1
XM_017007069.1	1526	Missense Mutation	TCC,TTC	S323F	XP_016862558.1

Gene

P2RY13

Gene Name

purinergic receptor P2Y13

There are no transcripts associated with this gene.

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