Assay Details
Target Gene Details
Entrez Gene ID: | 91010 |
Gene Name: | formin like 3 |
Gene Aliases: |
FHOD3, FRL2, WBP-3, WBP3 |
Location: |
Chr.12:49636499-49707414 on Build GRCh38 |
Assay Gene Location: | Within Exon 31 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FMNL3 | NM_175736.4 | 26 | 5813 | NP_783863.4 |
NM_198900.2 | 25 | 5660 | NP_944489.2 | |
XM_005269218.2 | 27 | 5907 | XP_005269275.1 | |
XM_011538968.2 | 27 | 6397 | XP_011537270.1 | |
XM_011538969.2 | 26 | 6281 | XP_011537271.1 | |
XM_011538970.2 | 27 | 6396 | XP_011537272.1 | |
XM_011538971.2 | 27 | 5972 | XP_011537273.1 | |
XM_011538972.2 | 26 | 6242 | XP_011537274.1 | |
XM_011538973.2 | 23 | 5387 | XP_011537275.2 | |
XM_011538974.2 | 28 | 5729 | XP_011537276.1 | |
AB095934.2 | 26 | 5813 | ||
BC159100.1 | 26 | 5813 |
Target Gene Details
Entrez Gene ID: | 25766 |
Gene Name: | pre-mRNA processing factor 40 homolog B |
Gene Aliases: |
HYPC |
Location: |
Chr.12:49622717-49644669 on Build GRCh38 |
Assay Gene Location: | Within Exon 25 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PRPF40B | NM_001031698.2 | 23 | 2480 | NP_001026868.2 |
NM_012272.2 | 22 | 2752 | NP_036404.1 | |
XM_006719324.3 | 22 | 3537 | XP_006719387.1 | |
XM_006719325.3 | 22 | 3534 | XP_006719388.1 | |
XM_011538135.2 | 22 | 3537 | XP_011536437.1 | |
XM_011538136.2 | 22 | 3534 | XP_011536438.1 | |
XM_011538137.2 | 21 | 3456 | XP_011536439.1 | |
XM_011538138.2 | 21 | 3426 | XP_011536440.1 | |
XM_011538139.2 | 23 | 2477 | XP_011536441.1 | |
XM_011538140.2 | 23 | 2474 | XP_011536442.1 | |
XM_011538141.1 | 22 | 2303 | XP_011536443.1 | |
XM_011538143.2 | 22 | 2319 | XP_011536445.1 | |
XM_011538144.2 | 21 | 2192 | XP_011536446.1 | |
XM_017019135.1 | 22 | 2240 | XP_016874624.1 | |
XM_017019136.1 | 21 | 2189 | XP_016874625.1 | |
XM_017019137.1 | 21 | 2189 | XP_016874626.1 | |
XM_017019138.1 | XP_016874627.1 | |||
XM_017019139.1 | 18 | 2203 | XP_016874628.1 | |
AK027117.1 | 8 | 761 | BAB15662.1 | |
AL137459.1 | 9 | 983 | CAB70747.1 | |
AL834216.1 | 22 | 2752 | CAD38898.1 | |
BC050398.2 | 23 | 2316 | AAH50398.1 | |
BC067364.1 | 22 | 2304 | AAH67364.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv952177 | Chr.12:49641618 - 49653517 on Build GRCh38 | Deletion | PRPF40B FMNL3 |
nsv832406 | Chr.12:49466910 - 49668353 on Build GRCh38 | Loss | SPATS2 PRPF40B FMNL3 LOC100422296 MCRS1 FAM186B KCNH3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |