Genomic Map
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Target Gene Details
Entrez Gene ID: | 7054 |
Gene Name: | tyrosine hydroxylase |
Gene Aliases: |
DYT14, DYT5b, TYH |
Location: |
Chr.11:2163929-2174081 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 3 - Exon 3 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| TH | NM_000360.3 | NP_000351.2 | ||
| NM_199292.2 | NP_954986.2 | |||
| NM_199293.2 | NP_954987.2 | |||
| XM_011520335.2 | XP_011518637.1 | |||
| BC104967.1 | AAI04968.1 | |||
| BC143611.1 | ||||
| BC143614.1 | ||||
| DQ677336.1 | ||||
| DQ677337.1 | ||||
| M17589.1 | AAA61179.1 | |||
| X05290.1 | CAA28908.1 | |||
| Y00414.1 | CAA68472.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv553070 | Chr.11:2154812 - 2177188 on Build GRCh38 | Loss |
 INS-IGF2
MIR4686
TH
INS
|
| nsv469927 | Chr.11:2165105 - 2201683 on Build GRCh38 | Loss |
MIR4686
TH
|
| nsv553068 | Chr.11:2096173 - 2174751 on Build GRCh38 | Loss |
IGF2
INS-IGF2
MIR4686
IGF2-AS
TH
INS
MIR483
|
| nsv951284 | Chr.11:2083671 - 2218670 on Build GRCh38 | Deletion |
IGF2
INS-IGF2
MIR4686
IGF2-AS
TH
INS
MIR483
|
| nsv553047 | Chr.11:1733170 - 2418537 on Build GRCh38 | Gain |
MIR4298
INS-IGF2
MIR675
TSPAN32
ASCL2
IGF2
CD81
HOTS
SNORD131
TH
LINC01219
MRPL23
MRPL23-AS1
C11orf21
INS
MIR7847
H19
TNNT3
CD81-AS1
MIR483
TNNI2
SYT8
TRPM5
LSP1
MIR4686
IGF2-AS
IFITM10
TSSC4
LINC01150
CTSD
|
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Additional Information:
For this assay, SNP(s) [rs76240471] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic
Non-exonic
DGV Variation
|
Gene Ontology Categories:
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