Assay Details
Target Gene Details
Entrez Gene ID: | 164656 |
Gene Name: | transmembrane protease, serine 6 |
Gene Aliases: |
IRIDA |
Location: |
Chr.22:37065436-37109701 on Build GRCh38 |
Assay Gene Location: | Within Exon 21 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TMPRSS6 | NM_001289000.1 | 19 | 2572 | NP_001275929.1 |
NM_001289001.1 | 18 | 2516 | NP_001275930.1 | |
NM_153609.3 | 18 | 2585 | NP_705837.1 | |
XM_011529989.2 | 16 | 2278 | XP_011528291.1 | |
AJ319876.1 | CAC85953.1 | |||
AY055384.1 | 18 | 2585 | AAL16414.1 | |
AY358398.1 | 18 | 2516 | AAQ88764.1 | |
CR456446.1 | 19 | 2572 | CAG30332.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv829203 | Chr.22:36998126 - 37773322 on Build GRCh38 | Loss | PDXP LOC100506271 MPST KCTD17 TRIOBP C1QTNF6 CARD10 TEX33 LOC101927051 NOL12 TST LGALS2 SH3BP1 CDC42EP1 CYTH4 GGA1 TMPRSS6 SSTR3 RAC2 MFNG LGALS1 LOC102724378 ELFN2 IL2RB |
nsv834187 | Chr.22:36965603 - 37163260 on Build GRCh38 | Loss | TST LL22NC01-81G9.3 MPST KCTD17 TMPRSS6 TEX33 IL2RB |
esv34015 | Chr.22:36966049 - 37189804 on Build GRCh38 | Loss | TST LL22NC01-81G9.3 MPST KCTD17 TMPRSS6 C1QTNF6 TEX33 IL2RB |
nsv459882 | Chr.22:36967923 - 37161398 on Build GRCh38 | Gain | TST LL22NC01-81G9.3 MPST KCTD17 TMPRSS6 TEX33 IL2RB |
nsv955155 | Chr.22:37059261 - 37079760 on Build GRCh38 | Deletion | KCTD17 TMPRSS6 |
More Information
Additional Information:
For this assay, SNP(s) [rs116795891] 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 |