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See other FANCA CNV Assays ›
Gene Symbol
FANCA
Assay Reference Genome
Location

Chr.16:89760280 on build GRCh38
Cytoband
16q24.3
Assay ID Hs03925380_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 2175

Gene Name:

 Fanconi anemia complementation group A

Gene Aliases:

 FA, FA-H, FA1, FAA, FACA, FAH, FANCH

Location:

 Chr.16:89737551-89816658 on Build GRCh38

Assay Gene Location:

 Within Intron 30
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
FANCA NM_000135.2 NP_000126.2
NM_001286167.1 NP_001273096.1
XM_005256294.4 XP_005256351.1
XM_011522945.2 XP_011521247.1
XM_011522946.2 XP_011521248.1
XM_011522947.2 XP_011521249.1
XM_017023044.1 XP_016878533.1
XM_017023045.1 XP_016878534.1
AK299282.1
AK301168.1
X99226.1 CAA67610.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv573744 Chr.16:89738447 - 89915950 on Build GRCh38 Loss LOC105371419 SPIRE2 TCF25 LOC107984817 ZNF276 FANCA
nsv573743 Chr.16:89664419 - 89853617 on Build GRCh38 Gain LOC105371419 SPIRE2 CDK10 LOC107984817 VPS9D1-AS1 SPATA33 ZNF276 VPS9D1 SPATA2L FANCA
esv2762221 Chr.16:89610380 - 90039318 on Build GRCh38 Gain+Loss SPIRE2 GAS8 DPEP1 GAS8-AS1 CDK10 CENPBD1 LOC107984817 VPS9D1-AS1 MC1R SPATA2L FANCA LOC105371419 CHMP1A TCF25 DBNDD1 TUBB3 AFG3L1P DEF8 SPATA33 ZNF276 VPS9D1
nsv428331 Chr.16:89216635 - 90185980 on Build GRCh38 Gain+Loss GAS8 LOC100287036 DPEP1 FAM157C SNORD68 ANKRD11 CDK10 TUBB8P7 VPS9D1-AS1 SPATA2L FANCA DBNDD1 DEF8 LOC101927817 CPNE7 ZNF276 VPS9D1 SPIRE2 GAS8-AS1 ZNF778 CENPBD1 LOC107984817 MC1R LOC105371419 CHMP1A LOC105371414 TCF25 TUBB3 URAHP RPL13 AFG3L1P PRDM7 SPG7 SPATA33
nsv833331 Chr.16:89726091 - 89849806 on Build GRCh38 Gain+Loss LOC105371419 SPIRE2 LOC107984817 ZNF276 FANCA
nsv482951 Chr.16:88633593 - 90228345 on Build GRCh38 Loss GAS8 LOC100287036 PABPN1L DPEP1 CDH15 MVD SNORD68 SNAI3 TUBB8P7 ACSF3 VPS9D1-AS1 CTU2 SPATA2L FANCA DEF8 LOC101927817 LOC100129697 CPNE7 ZNF276 IL17C SPIRE2 LOC105371409 SNAI3-AS1 ZNF778 TRAPPC2L CENPBD1 LOC105371419 CHMP1A LOC105371414 CBFA2T3 LOC101927793 CDT1 RPL13 AFG3L1P PRDM7 SPG7 CYBA LOC107987238 LOC100289580 FAM157C RNF166 ANKRD11 CDK10 APRT MIR4722 DBNDD1 LOC400558 PIEZO1 VPS9D1 LINC00304 GAS8-AS1 SLC22A31 GALNS LOC107984817 MC1R TCF25 TUBB3 URAHP LOC339059 SPATA33
nsv509639 Chr.16:89513538 - 89775915 on Build GRCh38 Insertion DPEP1 SNORD68 CDK10 VPS9D1-AS1 SPATA2L FANCA CHMP1A RPL13 SPG7 CPNE7 SPATA33 ZNF276 VPS9D1

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