Assay Details
Target Gene Details
Entrez Gene ID: | 6602 |
Gene Name: | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
Gene Aliases: |
BAF60A, CRACD1, Rsc6p |
Location: |
Chr.12:50085200-50100711 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMARCD1 | NM_003076.4 | 13 | 3210 | NP_003067.3 |
NM_139071.2 | 12 | 3087 | NP_620710.2 | |
XM_005269107.3 | 12 | 3087 | XP_005269164.2 | |
AA610093.1 | 1 | 222 | ||
AK130517.1 | 14 | 2950 | ||
BC009368.2 | 13 | 3160 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv558840 | Chr.12:50056193 - 50130181 on Build GRCh38 | Loss | COX14 SMARCD1 GPD1 ASIC1 CERS5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |