Product Details

SNP ID

rs55988854

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:108564972 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGAAGTAATTCTGGATGTTGATGG[A/G]GCACATCTGTGTTAACTATATTTTT

Phenotype

MIM: 602634 MIM: 612534

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DNAJB9 PubMed Links

Additional Information

For this assay, SNP(s) [rs111825882] are located under a primer 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

DNAJB9

Gene Name

DnaJ heat shock protein family (Hsp40) member B9

There are no transcripts associated with this gene.

Gene

THAP5

Gene Name

THAP domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130475.2	413	Missense Mutation	CCC,CTC	P136L	NP_001123947.1
NM_001287598.1	413	UTR 5			NP_001274527.1
NM_001287599.1	413	UTR 5			NP_001274528.1
NM_001287601.1	413	UTR 5			NP_001274530.1
NM_182529.3	413	Missense Mutation	CCC,CTC	P94L	NP_872335.2

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