Product Details

SNP ID

rs138691534

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:153330832 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGCCTGCCCAGGAGACAAGGTTC[A/G]GGCCACATCACTGTGGCCCACCAGC

Phenotype

MIM: 608198

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PGLYRP4 PubMed Links

Gene Details

Gene

PGLYRP4

Gene Name

peptidoglycan recognition protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020393.3	1417	Nonsense Mutation	CGA,TGA	R353*	NP_065126.2
XM_011509789.2	1417	Nonsense Mutation	CGA,TGA	R353*	XP_011508091.1
XM_011509790.1	1417	Nonsense Mutation	CGA,TGA	R353*	XP_011508092.1
XM_011509791.2	1417	Nonsense Mutation	CGA,TGA	R349*	XP_011508093.1
XM_011509792.1	1417	Intron			XP_011508094.1
XM_011509793.2	1417	Nonsense Mutation	CGA,TGA	R185*	XP_011508095.1

View Full Product Details