Assay Details
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 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MKKS | NM_018848.3 | 5 | 2111 | NP_061336.1 |
NM_170784.2 | 5 | 2001 | NP_740754.1 | |
NR_072977.1 | 4 | 599 | ||
AF221992.1 | 5 | 1956 | AAF73872.1 | |
AF221993.1 | 5 | 2108 | AAF73873.1 | |
AK025741.1 | 5 | 1936 | BAB15230.1 | |
AK291925.1 | 5 | 1950 | ||
AK296439.1 | 4 | 593 | ||
AL157427.1 | 5 | 1941 | CAB75652.1 | |
BC028973.2 | 5 | 1904 | 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 | SNAP25-AS1 JAG1 LOC101929371 MKKS ANKEF1 MIR6870 SNAP25 LOC105372526 LOC101929395 SLX4IP |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |