Product Details

SNP ID

rs78280711

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:186312772 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTATTAAACATGCCACTTACAGGTG[A/T]CCTTCATAATGAAGTTAAAGTGAGT

Phenotype

MIM: 604283 MIM: 189940

Polymorphism

A/T, Transversion 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	3767	Missense Mutation	GAC,GTC	D1291V	NP_001121180.2
NM_001127709.2	3767	Missense Mutation	GAC,GTC	D1239V	NP_001121181.2
NM_001127710.2	3767	Missense Mutation	GAC,GTC	D1198V	NP_001121182.2
NM_001303232.1	3767	Missense Mutation	GAC,GTC	D1289V	NP_001290161.1
NM_005807.4	3767	Missense Mutation	GAC,GTC	D1332V	NP_005798.3
XM_017000002.1	3767	Missense Mutation	GAC,GTC	D1239V	XP_016855491.1
XM_017000003.1	3767	Missense Mutation	GAC,GTC	D1198V	XP_016855492.1

Gene

TPR

Gene Name

translocated promoter region, nuclear basket protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003292.2	3767	UTR 3			NP_003283.2

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