Product Details

SNP ID

rs17847558

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48883991 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGTATTCCTGGTTAAATGCTCCC[A/G]GTCAGGATTCACCCCATTGTCAAAG

Phenotype

MIM: 611048 MIM: 602309

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PPP1R15A PubMed Links

Gene Details

Gene

PPP1R15A

Gene Name

protein phosphatase 1 regulatory subunit 15A

There are no transcripts associated with this gene.

Gene

TULP2

Gene Name

tubby like protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003323.2	1212	Missense Mutation	CGG,TGG	R373W	NP_003314.2
XM_006723347.3	1212	Missense Mutation	CGG,TGG	R373W	XP_006723410.1
XM_006723348.3	1212	Missense Mutation	CGG,TGG	R373W	XP_006723411.1
XM_011527252.2	1212	Missense Mutation	CGG,TGG	R373W	XP_011525554.1
XM_011527253.2	1212	Missense Mutation	CGG,TGG	R370W	XP_011525555.1
XM_011527254.2	1212	Missense Mutation	CGG,TGG	R373W	XP_011525556.1
XM_011527255.2	1212	Missense Mutation	CGG,TGG	R329W	XP_011525557.1
XM_011527256.2	1212	Missense Mutation	CGG,TGG	R329W	XP_011525558.1

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