Product Details

SNP ID

rs139410444

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:140024803 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGACGAACTCGCCCACCAGCAC[C/G]CGGGCCAGGAACATCGTGTGGGTCT

Phenotype

MIM: 612481 MIM: 274180

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PARP12 PubMed Links

Gene Details

Gene

PARP12

Gene Name

poly(ADP-ribose) polymerase family member 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022750.3	2737	Silent Mutation	CGC,CGG	R621R	NP_073587.1
XM_005250038.3	2737	Intron			XP_005250095.1
XM_005250039.4	2737	Intron			XP_005250096.1
XM_005250040.4	2737	Intron			XP_005250097.1
XM_011516491.2	2737	UTR 3			XP_011514793.1

Gene

TBXAS1

Gene Name

thromboxane A synthase 1

There are no transcripts associated with this gene.

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