Assay Details
Target Gene Details
Entrez Gene ID: | 23095 |
Gene Name: | kinesin family member 1B |
Gene Aliases: |
CMT2, CMT2A, CMT2A1, HMSNII, KLP, NBLST1 |
Location: |
Chr.1:10210706-10381603 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
KIF1B | NM_015074.3 | NP_055889.2 | ||
NM_183416.3 | NP_904325.2 | |||
AB011163.2 | BAA25517.2 | |||
AB017133.1 | BAB69038.1 | |||
AB040881.2 | ||||
AB088210.1 | BAE02543.1 | |||
AB088211.1 | BAE02544.1 | |||
AB088212.1 | BAE02545.1 | |||
AB088213.1 | BAE02546.1 | |||
AF257176.1 | AAK49332.1 | |||
AK308121.1 | ||||
AY043362.1 | AAK85155.1 | |||
AY139835.1 | AAN17742.1 | |||
BC115395.2 | ||||
BF940695.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv545381 | Chr.1:10236394 - 10363930 on Build GRCh38 | Gain | KIF1B |
esv2758920 | Chr.1:10178012 - 10522497 on Build GRCh38 | Gain+Loss | UBE4B MIR1273D DFFA APITD1-CORT APITD1 PGD PEX14 KIF1B CORT |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |