Genomic Map
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Target Gene Details
Entrez Gene ID: | 8195 |
Gene Name: | McKusick-Kaufman syndrome |
Gene Aliases: |
BBS6, HMCS, KMS, MKS |
Location: |
Chr.20:10404780-10434239 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| MKKS | NM_018848.3 | NP_061336.1 | ||
| NM_170784.2 | NP_740754.1 | |||
| NR_072977.1 | ||||
| AF075024.1 | ||||
| AF221992.1 | AAF73872.1 | |||
| AF221993.1 | AAF73873.1 | |||
| AF275813.1 | AAG23823.1 | |||
| AK025741.1 | BAB15230.1 | |||
| AK291925.1 | ||||
| AK296439.1 | ||||
| AL157427.1 | CAB75652.1 | |||
| BC028973.2 | AAH28973.1 | |||
| BM019257.1 | ||||
| DA209180.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv522874 | Chr.20:9918791 - 10838562 on Build GRCh38 | Loss |
 LOC101929395
LOC101929371
MIR6870
ANKEF1
SNAP25
LOC105372526
SNAP25-AS1
SLX4IP
JAG1
MKKS
|
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Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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