Assay Details
Target Gene Details
Entrez Gene ID: | 765 |
Gene Name: | carbonic anhydrase 6 |
Gene Aliases: |
CA-VI, GUSTIN |
Location: |
Chr.1:8945786-8975092 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CA6 | NM_001215.3 | NP_001206.2 | ||
NM_001270500.1 | NP_001257429.1 | |||
NM_001270501.1 | NP_001257430.1 | |||
NM_001270502.1 | NP_001257431.1 | |||
XM_011542083.2 | XP_011540385.1 | |||
XM_011542084.2 | XP_011540386.1 | |||
AB102863.1 | BAD89397.1 | |||
AB103091.1 | BAD89434.1 | |||
AK300652.1 | ||||
BC034350.1 | AAH34350.1 | |||
BP333541.1 | ||||
BP334640.1 | ||||
CB956732.1 | ||||
M57892.1 | AAA51892.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1965 | Chr.1:8943679 - 8947598 on Build GRCh38 | Insertion | CA6 |
nsv545345 | Chr.1:8831066 - 9035551 on Build GRCh38 | Gain | ENO1-AS1 CA6 SLC2A7 MIR6728 ENO1 |
esv3585160 | Chr.1:8946310 - 8952931 on Build GRCh38 | Loss | CA6 |
esv2763506 | Chr.1:8941428 - 8967855 on Build GRCh38 | Gain | CA6 |
More Information
Additional Information:
For this assay, SNP(s) [rs75986281,rs77376795] 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 Intronic Non-exonic DGV Variation |