Product Details

SNP ID

rs143556920

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:186296879 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTACGGTACCTGAAAACAACGATG[A/G]CATGGAAAACACTTCCCATTTACCT

Phenotype

MIM: 604283

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PRG4 PubMed Links

Gene Details

Gene

PRG4

Gene Name

proteoglycan 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127708.2	55	Missense Mutation	ACA,GCA	T2A	NP_001121180.2
NM_001127709.2	55	Missense Mutation	ACA,GCA	T2A	NP_001121181.2
NM_001127710.2	55	Missense Mutation	ACA,GCA	T2A	NP_001121182.2
NM_001303232.1	55	Missense Mutation	ACA,GCA	T2A	NP_001290161.1
NM_005807.4	55	Missense Mutation	ACA,GCA	T2A	NP_005798.3
XM_017000002.1	55	Missense Mutation	ACA,GCA	T2A	XP_016855491.1
XM_017000003.1	55	Missense Mutation	ACA,GCA	T2A	XP_016855492.1

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