Product Details

SNP ID
rs7430680
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:46701259 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTGGGGATGCGGAAGGTGGGGGC[A/T]GGGAGGGGGAGCCTGCGGCCCGATC
Phenotype
MIM: 612402 MIM: 607237
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
ALS2CL PubMed Links
Additional Information
For this assay, SNP(s) [rs184330048,rs192733532] 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
ALS2CL
Gene Name
ALS2 C-terminal like
There are no transcripts associated with this gene.

Gene
TMIE
Gene Name
transmembrane inner ear
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_147196.2 Intron NP_671729.2
XM_006713097.3 Intron XP_006713160.1

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