Assay Details
Target Gene Details
Entrez Gene ID: | 4286 |
Gene Name: | melanogenesis associated transcription factor |
Gene Aliases: |
CMM8, MI, WS2, WS2A, bHLHe32 |
Location: |
Chr.3:69739435-69968337 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MITF | NM_198159.2 | NP_937802.1 | ||
XM_005264754.1 | XP_005264811.1 | |||
XM_006713164.2 | XP_006713227.1 | |||
XM_011533722.2 | XP_011532024.1 | |||
XM_011533725.1 | XP_011532027.1 | |||
XM_011533726.1 | XP_011532028.1 | |||
XM_017006444.1 | 1 | 4640 | XP_016861933.1 | |
XM_017006445.1 | XP_016861934.1 | |||
XM_017006447.1 | XP_016861936.1 | |||
XM_017006448.1 | XP_016861937.1 | |||
AB006909.1 | BAA32288.1 | |||
AK291318.1 | ||||
AL110195.1 | CAB53672.1 | |||
DA058963.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv834723 | Chr.3:69594490 - 69762450 on Build GRCh38 | Gain | MITF |
More Information
Additional Information:
For this assay, SNP(s) [rs112650907] are located under a primer or 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.
Set Membership: |
Intragenic Exonic DGV Variation |