Assay Details
Target Gene Details
Entrez Gene ID: | 337880 |
Gene Name: | keratin associated protein 11-1 |
Gene Aliases: |
HACL-1, HACL1, KAP11.1 |
Location: |
Chr.21:30880644-30881555 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
KRTAP11-1 | NM_175858.2 | 1 | 323 | NP_787054.1 |
AB096963.1 | 1 | 301 | BAE46378.1 | |
AJ457065.1 | 1 | 323 | CAD29721.1 | |
BC130555.1 | 1 | 316 | ||
BC130557.1 | 1 | 316 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv834078 | Chr.21:30847656 - 31014506 on Build GRCh38 | Gain | KRTAP11-1 |
nsv834077 | Chr.21:30758503 - 30921578 on Build GRCh38 | Gain | KRTAP8-1 KRTAP11-1 KRTAP7-1 |
nsv518454 | Chr.21:30842336 - 30927564 on Build GRCh38 | Loss | KRTAP11-1 |
nsv1057467 | Chr.21:30318003 - 30993921 on Build GRCh38 | Gain | KRTAP19-3 KRTAP19-4 KRTAP20-4 KRTAP21-3 KRTAP19-2 KRTAP20-2 KRTAP22-1 KRTAP13-1 KRTAP26-1 KRTAP23-1 KRTAP15-1 KRTAP21-1 KRTAP19-7 MIR4327 KRTAP8-1 KRTAP19-1 KRTAP20-3 KRTAP21-2 KRTAP6-2 KRTAP7-1 KRTAP19-6 KRTAP13-2 KRTAP20-1 KRTAP13-3 KRTAP6-1 KRTAP19-5 KRTAP11-1 KRTAP13-4 KRTAP27-1 KRTAP6-3 KRTAP22-2 |
esv3646842 | Chr.21:30849249 - 30930214 on Build GRCh38 | Loss | KRTAP11-1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |