Assay Details
Target Gene Details
Entrez Gene ID: | 50485 |
Gene Name: | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 |
Gene Aliases: |
HARP, HHARP |
Location: |
Chr.2:216412414-216483053 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMARCAL1 | NM_001127207.1 | NP_001120679.1 | ||
NM_014140.3 | NP_054859.2 | |||
XM_005246631.2 | XP_005246688.1 | |||
XM_005246632.1 | XP_005246689.1 | |||
XM_017004228.1 | XP_016859717.1 | |||
AF082179.1 | AAF24984.1 | |||
AF432223.1 | AAL73034.1 | |||
AK023780.1 | ||||
AL122076.1 | CAB59251.1 | |||
BC016482.1 | AAH16482.1 | |||
BC043341.1 | AAH43341.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv524480 | Chr.2:216410728 - 216424792 on Build GRCh38 | Loss |
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nsv834537 | Chr.2:216266174 - 216448640 on Build GRCh38 | Loss |
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nsv1005697 | Chr.2:216231371 - 216429101 on Build GRCh38 | Loss |
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nsv1001603 | Chr.2:216327457 - 216442936 on Build GRCh38 | Gain |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)