Assay Details
Target Gene Details
Entrez Gene ID: | 2583 |
Gene Name: | beta-1,4-N-acetyl-galactosaminyltransferase 1 |
Gene Aliases: |
GALGT, GALNACT, GalNAc-T, SPG26 |
Location: |
Chr.12:57623409-57633239 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
B4GALNT1 | NM_001276468.1 | NP_001263397.1 | ||
NM_001478.4 | NP_001469.1 | |||
XM_005268773.4 | 11 | 2947 | XP_005268830.1 | |
XM_011538147.2 | 12 | 2965 | XP_011536449.1 | |
XM_011538148.2 | 12 | 2932 | XP_011536450.1 | |
XM_017019140.1 | 11 | 3049 | XP_016874629.1 | |
XM_017019141.1 | 11 | 2761 | XP_016874630.1 | |
XM_017019142.1 | 11 | 2626 | XP_016874631.1 | |
AB209460.1 | 10 | 3129 | BAD92697.1 | |
M83651.1 | AAA35516.1 |
Target Gene Details
Entrez Gene ID: | 65012 |
Gene Name: | solute carrier family 26 member 10 |
Gene Aliases: |
- |
Location: |
Chr.12:57619910-57626151 on Build GRCh38 |
Assay Gene Location: | Within Exon 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SLC26A10 | NM_133489.2 | 14 | 2119 | NP_597996.2 |
AF331523.1 | 14 | 2119 | AAM92901.1 | |
AK122981.1 | BAC85515.1 | |||
AL050358.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv482992 | Chr.12:56206217 - 57706217 on Build GRCh38 | Gain+Loss | MBD6 PIP4K2C RBMS2 MARS APOF DTX3 RDH16 MIR6758 GLI1 SDR9C7 RNF41 ARHGAP9 HSD17B6 PRIM1 INHBE PAN2 BAZ2A KIF5A NDUFA4L2 GPR182 OS9 LRP1-AS NEMP1 STAC3 TAC3 COQ10A PTGES3 R3HDM2 SHMT2 CS SNORD59B SNORD59A ANKRD52 CNPY2 B4GALNT1 ARHGEF25 NACA NAB2 TIMELESS MIR616 SLC39A5 LOC101927583 IL23A SNORA105C SLC26A10 LRP1 HBCBP STAT2 DCTN2 NXPH4 DDIT3 NABP2 GLS2 ZBTB39 INHBC MIP MIR1228 ATP5B STAT6 SPRYD4 MYO1A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |