Genomic Map
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Target Gene Details
Entrez Gene ID: | 6261 |
Gene Name: | ryanodine receptor 1 |
Gene Aliases: |
CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR |
Location: |
Chr.19:38433700-38587564 on Build GRCh38 |
Assay Gene Location: | Within Exon 14 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| RYR1 | NM_000540.2 | 14 | 1629 | NP_000531.2 |
| NM_001042723.1 | 14 | 1629 | NP_001036188.1 | |
| XM_006723317.2 | 14 | 1579 | XP_006723380.1 | |
| XM_006723319.2 | 14 | 1579 | XP_006723382.1 | |
| XM_011527205.2 | 14 | 1579 | XP_011525507.1 | |
| A20359.1 | 14 | 1604 | CAA01501.1 | |
| BI000785.1 | 3 | 229 | ||
| J05200.1 | 14 | 1604 | AAA60294.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv833824 | Chr.19:38423978 - 38594118 on Build GRCh38 | Loss |
 RASGRP4
RYR1
MAP4K1
|
| nsv833823 | Chr.19:38364910 - 38545160 on Build GRCh38 | Loss |
CATSPERG
PSMD8
FAM98C
SPRED3
GGN
RASGRP4
RYR1
|
| dgv3525n100 | Chr.19:38405604 - 38459089 on Build GRCh38 | Gain |
FAM98C
RASGRP4
RYR1
|
| nsv470140 | Chr.19:38349499 - 38628854 on Build GRCh38 | Gain |
EIF3K
CATSPERG
LOC105372397
PSMD8
FAM98C
SPRED3
GGN
RASGRP4
RYR1
MAP4K1
|
| nsv833826 | Chr.19:38454466 - 38693907 on Build GRCh38 | Loss |
EIF3K
ACTN4
LOC105372397
RYR1
MAP4K1
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Gene Ontology Categories:
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