Product Details

SNP ID

rs138094239

Assay Type

Functionally tested

NCBI dbSNP Submissions

9

Location

Chr.1:27831815 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTGGGGCAGGATTGTGAGATGACT[A/G]TGTTGAATCTTCAGTTAGCTAGACA

Phenotype

MIM: 602636 MIM: 606892

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PPP1R8 PubMed Links

Gene Details

Gene

PPP1R8

Gene Name

protein phosphatase 1 regulatory subunit 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002713.3		Intron			NP_002704.1
NM_014110.4		Intron			NP_054829.2
NM_138558.2		Intron			NP_612568.1
XM_017001594.1		Intron			XP_016857083.1

Gene

SCARNA1

Gene Name

small Cajal body-specific RNA 1

There are no transcripts associated with this gene.

Gene

STX12

Gene Name

syntaxin 12

There are no transcripts associated with this gene.

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