Assay Details
Target Gene Details
Entrez Gene ID: | 5091 |
Gene Name: | pyruvate carboxylase |
Gene Aliases: |
PCB |
Location: |
Chr.11:66848522-66958418 on Build GRCh38 |
Assay Gene Location: | Within Exon 29 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PC | NM_000920.3 | 19 | 2872 | NP_000911.2 |
NM_001040716.1 | 20 | 3060 | NP_001035806.1 | |
NM_022172.2 | 18 | 2827 | NP_071504.2 | |
XM_005274031.4 | 18 | 2919 | XP_005274088.1 | |
XM_005274032.4 | 18 | 2801 | XP_005274089.1 | |
XM_006718578.3 | 18 | 2872 | XP_006718641.1 | |
XM_006718579.3 | 10 | 1661 | XP_006718642.1 | |
XM_011545086.2 | 18 | 3188 | XP_011543388.1 | |
XM_011545087.2 | 10 | 1786 | XP_011543389.1 | |
XM_017017868.1 | 21 | 3359 | XP_016873357.1 | |
XM_017017869.1 | 21 | 3230 | XP_016873358.1 | |
XM_017017870.1 | 20 | 3171 | XP_016873359.1 | |
XM_017017871.1 | 20 | 3042 | XP_016873360.1 | |
XM_017017872.1 | 19 | 3424 | XP_016873361.1 | |
BC011617.2 | 19 | 2861 | AAH11617.1 | |
S72370.1 | 18 | 2860 | AAB31500.1 | |
U04641.1 | 18 | 2816 | AAA99537.1 | |
U30891.1 | 19 | 2830 | AAA82937.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv555226 | Chr.11:66812101 - 67077891 on Build GRCh38 | Gain | SYT12 MIR3163 LRFN4 RHOD C11orf80 MIR6860 C11orf86 RCE1 PC |
nsv951020 | Chr.11:66843130 - 66869629 on Build GRCh38 | Deletion | LRFN4 C11orf80 RCE1 PC |
nsv508638 | Chr.11:66774182 - 66876163 on Build GRCh38 | Deletion | LRFN4 C11orf80 RCE1 PC |
nsv555225 | Chr.11:66700998 - 66866926 on Build GRCh38 | Loss | LRFN4 C11orf80 SPTBN2 RCE1 PC |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |