Product Details

SNP ID

rs138590813

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64243970 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGACTCCCCTTCTCCCCTACAGGT[A/G]GTGCAACCCTGGTGTTCGAGGTGGA

Phenotype

MIM: 604189 MIM: 186946 MIM: 600230 MIM: 601140 MIM: 601398

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

DNAJC4 PubMed Links

Additional Information

For this assay, SNP(s) [rs654573] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

DNAJC4

Gene Name

DnaJ heat shock protein family (Hsp40) member C4

There are no transcripts associated with this gene.

Gene

FKBP2

Gene Name

FK506 binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135208.1	566	Missense Mutation	AGT,GGT	S124G	NP_001128680.1
NM_004470.3	566	Missense Mutation	AGT,GGT	S124G	NP_004461.2
NM_057092.2	566	Missense Mutation	AGT,GGT	S124G	NP_476433.1
XM_005273848.3	566	Missense Mutation	AGT,GGT	S124G	XP_005273905.1

Gene

LOC105369340

Gene Name

uncharacterized LOC105369340

There are no transcripts associated with this gene.

Gene

PLCB3

Gene Name

phospholipase C beta 3

There are no transcripts associated with this gene.

Gene

PPP1R14B

Gene Name

protein phosphatase 1 regulatory inhibitor subunit 14B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138689.2	566	Intron			NP_619634.1

Gene

VEGFB

Gene Name

vascular endothelial growth factor B

There are no transcripts associated with this gene.

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