Assay Details
Target Gene Details
Entrez Gene ID: | 11194 |
Gene Name: | ATP binding cassette subfamily B member 8 |
Gene Aliases: |
EST328128, M-ABC1, MABC1 |
Location: |
Chr.7:151028422-151047782 on Build GRCh38 |
Assay Gene Location: | Within Intron 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ABCB8 | NM_001282291.1 | NP_001269220.1 | ||
NM_001282292.1 | NP_001269221.1 | |||
NM_001282293.1 | NP_001269222.1 | |||
NM_007188.4 | NP_009119.2 | |||
AF047690.1 | AAD15748.1 | |||
AK002018.1 | BAA92038.1 | |||
AK024401.1 | ||||
AK094005.1 | ||||
AK094636.1 | BAC04392.1 | |||
AK126885.1 | 1 | 2266 | ||
AK222911.1 | BAD96631.1 | |||
AK294344.1 | ||||
AK310796.1 | ||||
AK314721.1 | ||||
BC141814.1 | ||||
BC141836.1 | ||||
BC151235.1 | ||||
U66688.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv831188 | Chr.7:151038117 - 151215789 on Build GRCh38 | Loss | IQCA1L FASTK TMUB1 ASB10 CDK5 SLC4A2 AGAP3 ABCB8 ABCF2 GBX1 ASIC3 |
nsv526410 | Chr.7:151017725 - 151078219 on Build GRCh38 | Loss | FASTK ATG9B CDK5 SLC4A2 ABCB8 ASIC3 |
nsv951648 | Chr.7:150931413 - 151106413 on Build GRCh38 | Deletion | FASTK TMUB1 ATG9B NOS3 KCNH2 CDK5 SLC4A2 AGAP3 ABCB8 ASIC3 |
nsv524928 | Chr.7:151034611 - 151069712 on Build GRCh38 | Gain | CDK5 SLC4A2 ABCB8 ASIC3 |
dgv6756n100 | Chr.7:151033912 - 151093430 on Build GRCh38 | Gain | FASTK TMUB1 CDK5 SLC4A2 AGAP3 ABCB8 ASIC3 |
More Information
Additional Information:
For this assay, SNP(s) [rs77475957] 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 |