Product Details

SNP ID: rs201673223
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:151328349 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACTTTTGGACTTTCTATAAGAATCA[C/T]ATACTTTTTTTGCAATAACCACATA
Phenotype: MIM: 611318 MIM: 600515 MIM: 606380
Polymorphism: C/T, 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	728	Intron			NP_443728.3
XM_006713487.3	728	Intron			XP_006713550.1
XM_011512390.2	728	Intron			XP_011510692.1
XM_011512394.2	728	Intron			XP_011510696.1
XM_011512399.2	728	Intron			XP_011510701.1
XM_017005676.1	728	Intron			XP_016861165.1
XM_017005677.1	728	Intron			XP_016861166.1
XM_017005678.1	728	Intron			XP_016861167.1
XM_017005679.1	728	Intron			XP_016861168.1
XM_017005680.1	728	Intron			XP_016861169.1
XM_017005681.1	728	Intron			XP_016861170.1

Gene: P2RY12
Gene Name: purinergic receptor P2Y12

There are no transcripts associated with this gene.

Gene: P2RY13
Gene Name: purinergic receptor P2Y13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_176894.2	728	Missense Mutation	TAT,TGT	Y236C	NP_795713.2
XM_006713664.1	728	Intron			XP_006713727.1

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