Product Details

SNP ID

rs1052942

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:74498709 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGTGCCAGCAGGATATATTTGGGG[A/G]ATGGTAAGTTCTCCGATGGTGAGGT

Phenotype

MIM: 615317 MIM: 602091 MIM: 601015

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ISCA2 PubMed Links

Additional Information

For this assay, SNP(s) [rs113879332] 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

ISCA2

Gene Name

iron-sulfur cluster assembly 2

There are no transcripts associated with this gene.

Gene

LTBP2

Gene Name

latent transforming growth factor beta binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000428.2	8028	UTR 3			NP_000419.1
XM_011536765.1	8028	UTR 3			XP_011535067.1

Gene

NPC2

Gene Name

NPC intracellular cholesterol transporter 2

There are no transcripts associated with this gene.

View Full Product Details