Assay Details
Target Gene Details
Entrez Gene ID: | 26160 |
Gene Name: | intraflagellar transport 172 |
Gene Aliases: |
BBS20, NPHP17, RP71, SLB, SRTD10, osm-1, wim |
Location: |
Chr.2:27444373-27489819 on Build GRCh38 |
Assay Gene Location: | Within Exon 33 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| IFT172 | NM_015662.2 | 30 | 3492 | NP_056477.1 |
| XM_005264254.1 | 30 | 3323 | XP_005264311.1 | |
| XM_006711986.3 | 31 | 3584 | XP_006712049.1 | |
| XM_006711987.1 | 30 | 3389 | XP_006712050.1 | |
| XM_011532757.2 | 30 | 3698 | XP_011531059.1 | |
| XM_011532758.1 | 30 | 3389 | XP_011531060.1 | |
| XM_011532759.2 | 16 | 1974 | XP_011531061.1 | |
| XM_011532760.2 | 13 | 1654 | XP_011531062.1 | |
| XM_017003790.1 | 31 | 3518 | XP_016859279.1 | |
| XM_017003791.1 | 29 | 3459 | XP_016859280.1 | |
| XM_017003792.1 | 30 | 3389 | XP_016859281.1 | |
| XM_017003793.1 | 26 | 2899 | XP_016859282.1 | |
| XM_017003794.1 | 24 | 2602 | XP_016859283.1 | |
| XM_017003795.1 | 28 | 3451 | XP_016859284.1 | |
| AB033005.1 | 12 | 1357 | BAA86493.1 | |
| AL110218.1 | 27 | 3048 | CAB53678.1 | |
| BC137126.1 | 30 | 3382 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv817684 | Chr.2:27434300 - 27623736 on Build GRCh38 | Gain |
|
| nsv581244 | Chr.2:27335385 - 27480628 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map