Assay Details
Target Gene Details
Entrez Gene ID: | 50807 |
Gene Name: | ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 |
Gene Aliases: |
AMAP1, CENTB4, DDEF1, PAG2, PAP, ZG14P |
Location: |
Chr.8:130052104-130443848 on Build GRCh38 |
Assay Gene Location: | Within Exon 37 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ASAP1 | NM_001247996.1 | 31 | 5270 | NP_001234925.1 |
NM_018482.3 | 30 | 5168 | NP_060952.2 | |
XM_005250925.1 | 31 | 5177 | XP_005250982.1 | |
XM_006716563.3 | 31 | 4996 | XP_006716626.1 | |
XM_006716564.1 | 32 | 5155 | XP_006716627.1 | |
XM_006716565.3 | 30 | 4992 | XP_006716628.1 | |
XM_006716566.1 | 30 | 5006 | XP_006716629.1 | |
XM_011517052.2 | 31 | 4993 | XP_011515354.1 | |
XM_011517053.1 | 31 | 5199 | XP_011515355.1 | |
XM_017013467.1 | 29 | 5014 | XP_016868956.1 | |
XM_017013468.1 | 30 | 5238 | XP_016868957.1 | |
XM_017013469.1 | 29 | 4997 | XP_016868958.1 | |
AB033075.1 | 24 | 4401 | BAA86563.1 | |
AK056811.1 | 1 | 1543 | ||
BC020631.1 | 1 | 1058 | AAH20631.1 | |
BC137135.1 | 29 | 4965 | ||
BX537768.1 | 23 | 4421 | CAD97831.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv612234 | Chr.8:130026863 - 130318766 on Build GRCh38 | Gain | ASAP1 ASAP1-IT2 ASAP1-IT1 |
nsv612259 | Chr.8:130049125 - 130054602 on Build GRCh38 | Gain | ASAP1 |
nsv1018045 | Chr.8:129851398 - 130110398 on Build GRCh38 | Gain | ASAP1 MIR5194 FAM49B ASAP1-IT2 |
esv3576608 | Chr.8:129860292 - 130116656 on Build GRCh38 | Gain | ASAP1 MIR5194 FAM49B ASAP1-IT2 |
nsv612231 | Chr.8:129855966 - 130120346 on Build GRCh38 | Gain | ASAP1 MIR5194 FAM49B ASAP1-IT2 |
nsv465808 | Chr.8:129951013 - 130106412 on Build GRCh38 | Loss | ASAP1 MIR5194 FAM49B ASAP1-IT2 |
nsv524349 | Chr.8:129856117 - 130120346 on Build GRCh38 | Gain | ASAP1 MIR5194 FAM49B ASAP1-IT2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |