Assay Details
Target Gene Details
Entrez Gene ID: | 5798 |
Gene Name: | protein tyrosine phosphatase, receptor type N |
Gene Aliases: |
IA-2, IA-2/PTP, IA2, ICA512, R-PTP-N |
Location: |
Chr.2:219289623-219309573 on Build GRCh38 |
Assay Gene Location: | Within Exon 24 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTPRN | NM_001199763.1 | 22 | 3236 | NP_001186692.1 |
NM_001199764.1 | 23 | 3093 | NP_001186693.1 | |
NM_002846.3 | 23 | 3323 | NP_002837.1 | |
XM_011511566.1 | 22 | 2953 | XP_011509868.1 | |
XM_017004609.1 | 23 | 3175 | XP_016860098.1 | |
XM_017004610.1 | 22 | 3088 | XP_016860099.1 | |
XM_017004611.1 | 22 | 2956 | XP_016860100.1 | |
XM_017004612.1 | 21 | 2866 | XP_016860101.1 | |
AB209368.1 | 20 | 4640 | BAD92605.1 | |
AK054765.1 | 4 | 1780 | ||
AK122679.1 | 14 | 1837 | ||
AK291469.1 | ||||
AK296335.1 | 23 | 3070 | ||
BC007713.2 | 19 | 2578 | AAH07713.2 | |
BC070053.1 | 22 | 3062 | AAH70053.1 | |
L18983.1 | 23 | 3155 | AAA90974.1 | |
X62899.2 | 21 | 2845 | CAA44688.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv584501 | Chr.2:219260522 - 219323181 on Build GRCh38 | Loss | MIR153-1 PTPRN DNAJB2 TUBA4B |
nsv527936 | Chr.2:219270486 - 219328674 on Build GRCh38 | Loss | MIR153-1 PTPRN DNAJB2 RESP18 TUBA4B |
nsv834543 | Chr.2:219226398 - 219416430 on Build GRCh38 | Loss | MIR153-1 GLB1L ATG9A DNPEP STK16 PTPRN DNAJB2 RESP18 TUBA4B ANKZF1 TUBA4A |
nsv508885 | Chr.2:219231225 - 219333602 on Build GRCh38 | Insertion | MIR153-1 GLB1L STK16 PTPRN DNAJB2 RESP18 TUBA4B ANKZF1 TUBA4A |
More Information
Additional Information:
For this assay, SNP(s) [rs114325960] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |