Product Details

SNP ID

rs12946086

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:59220877 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGAAGAATGGGGTTGTGTGAATTGA[A/G]GGCTCTTCCGGAGGTGAAGGCTGTG

Phenotype

MIM: 616317 MIM: 613175

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GDPD1 PubMed Links

Gene Details

Gene

GDPD1

Gene Name

glycerophosphodiester phosphodiesterase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001165993.1		Intron			NP_001159465.1
NM_001165994.1		Intron			NP_001159466.1
NM_182569.3		Intron			NP_872375.2
XM_017024521.1		Intron			XP_016880010.1

Gene

SMG8

Gene Name

SMG8, nonsense mediated mRNA decay factor

There are no transcripts associated with this gene.

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