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 Exon 4 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| MKKS | NM_018848.3 | 3 | 1099 | NP_061336.1 |
| NM_170784.2 | 3 | 989 | NP_740754.1 | |
| NR_072977.1 | ||||
| AF221992.1 | 3 | 944 | AAF73872.1 | |
| AF221993.1 | 3 | 1096 | AAF73873.1 | |
| AK025741.1 | 3 | 924 | BAB15230.1 | |
| AK291925.1 | 3 | 938 | ||
| AK296439.1 | ||||
| AL157427.1 | 3 | 929 | CAB75652.1 | |
| BC028973.2 | 3 | 892 | AAH28973.1 |
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 |
 LOC101929371
SNAP25-AS1
MIR6870
SLX4IP
ANKEF1
LOC101929395
MKKS
JAG1
LOC105372526
SNAP25
|
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Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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