Assay Details
Target Gene Details
Entrez Gene ID: | 60682 |
Gene Name: | small ArfGAP 1 |
Gene Aliases: |
SMAP-1 |
Location: |
Chr.6:70667771-70862015 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMAP1 | NM_001044305.2 | NP_001037770.1 | ||
NM_001281439.1 | NP_001268368.1 | |||
NM_001281440.1 | NP_001268369.1 | |||
NM_021940.4 | NP_068759.2 | |||
XM_005248760.4 | XP_005248817.1 | |||
XM_011536045.2 | XP_011534347.1 | |||
XM_011536046.2 | XP_011534348.1 | |||
XM_011536047.2 | XP_011534349.1 | |||
XM_011536048.2 | XP_011534350.1 | |||
XM_017011170.1 | XP_016866659.1 | |||
AF442495.1 | AAP97320.1 | |||
AK023221.1 | BAB14473.1 | |||
AK124239.1 | ||||
AK222711.1 | BAD96431.1 | |||
AK290448.1 | ||||
AK303387.1 | ||||
AK307807.1 | ||||
AK315579.1 | ||||
AY055003.1 | AAL14714.1 | |||
AY055004.1 | AAL14715.1 | |||
BC008672.2 | AAH08672.1 | |||
BC028074.1 | AAH28074.1 | |||
BC036123.1 | AAH36123.1 | |||
DA527013.1 | ||||
DB480952.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv524328 | Chr.6:70252130 - 70849102 on Build GRCh38 | Gain | EVADR COL9A1 FAM135A SMAP1 SDHAF4 |
nsv1027049 | Chr.6:70251907 - 70851785 on Build GRCh38 | Gain | EVADR COL9A1 FAM135A SMAP1 SDHAF4 |
More Information
Additional Information:
For this assay, SNP(s) [rs139646718] 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 |