Assay Details
Target Gene Details
Entrez Gene ID: | 253512 |
Gene Name: | solute carrier family 25 member 30 |
Gene Aliases: |
KMCP1 |
Location: |
Chr.13:45393316-45434016 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SLC25A30 | NM_001010875.3 | NP_001010875.1 | ||
NM_001286806.1 | NP_001273735.1 | |||
NM_001286807.1 | NP_001273736.1 | |||
XM_005266321.2 | XP_005266378.1 | |||
XM_005266322.1 | XP_005266379.1 | |||
XM_006719793.3 | XP_006719856.1 | |||
XM_011535026.1 | XP_011533328.1 | |||
XM_011535027.2 | XP_011533329.1 | |||
XM_017020523.1 | XP_016876012.1 | |||
AK094133.1 | ||||
AK095465.1 | ||||
AK302967.1 | ||||
BC132739.1 | ||||
BC136760.1 | ||||
DA184634.1 | ||||
DC322809.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv223e201 | Chr.13:45377870 - 46464067 on Build GRCh38 | Deletion | LRRC63 CPB2-AS1 LINC01198 ERICH6B LCP1 SPERT SLC25A30-AS1 SLC25A30 ZC3H13 SIAH3 LINC00563 CPB2 KIAA0226L LINC01055 TPT1-AS1 COG3 |
nsv510579 | Chr.13:45305226 - 45424938 on Build GRCh38 | Deletion | SLC25A30-AS1 SLC25A30 SNORA31 TPT1 TPT1-AS1 |
esv3631957 | Chr.13:45413790 - 45431769 on Build GRCh38 | Loss | SLC25A30-AS1 SLC25A30 |
More Information
Additional Information:
For this assay, SNP(s) [rs79013493] 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 Intronic Non-exonic DGV Variation |