Product Details

SNP ID

rs10135

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.22:38686169 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

AAATGGTGCAGAAGAGACTGCGGCC[A/G]GTTGCTGAGAAGATATAACGCAGTA

Phenotype

MIM: 615323 MIM: 607046

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

JOSD1 PubMed Links

Additional Information

For this assay, SNP(s) [rs116682542] 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

JOSD1

Gene Name

Josephin domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014876.5	3040	UTR 3			NP_055691.1
XM_005261876.2	3040	UTR 3			XP_005261933.1
XM_005261877.2	3040	UTR 3			XP_005261934.1
XM_005261878.2	3040	UTR 3			XP_005261935.1
XM_005261879.2	3040	UTR 3			XP_005261936.1

Gene

TOMM22

Gene Name

translocase of outer mitochondrial membrane 22

There are no transcripts associated with this gene.

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