Assay Details
Target Gene Details
Entrez Gene ID: | 25861 |
Gene Name: | whirlin |
Gene Aliases: |
CIP98, DFNB31, PDZD7B, USH2D, WI |
Location: |
Chr.9:114402078-114505509 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 16 - Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
WHRN | NM_001083885.2 | NP_001077354.2 | ||
NM_001173425.1 | NP_001166896.1 | |||
NM_015404.3 | NP_056219.3 | |||
XM_011518484.1 | XP_011516786.1 | |||
XM_011518485.1 | XP_011516787.1 | |||
XM_011518486.1 | XP_011516788.1 | |||
XM_011518487.1 | XP_011516789.1 | |||
XM_011518488.1 | XP_011516790.1 | |||
XM_011518495.1 | XP_011516797.1 | |||
AB040959.1 | ||||
AK022854.1 | BAB14275.1 | |||
AL110228.1 | CAB53685.2 | |||
BC136416.1 | ||||
BC142614.1 | ||||
BC142684.1 | ||||
BX329269.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv948n27 | Chr.9:114193988 - 114693895 on Build GRCh38 | Gain | MIR455 LOC100505478 AKNA WHRN ATP6V1G1 TMEM268 ORM2 COL27A1 ORM1 |
dgv7706n100 | Chr.9:114182745 - 114697870 on Build GRCh38 | Gain | MIR455 LOC100505478 AKNA WHRN ATP6V1G1 TMEM268 ORM2 COL27A1 ORM1 |
nsv831693 | Chr.9:114354170 - 114519615 on Build GRCh38 | Gain | AKNA WHRN |
dgv33e196 | Chr.9:114030664 - 114604363 on Build GRCh38 | Duplication | KIF12 MIR455 ZNF618 AKNA WHRN ATP6V1G1 AMBP TMEM268 ORM2 COL27A1 ORM1 |
nsv615233 | Chr.9:114167820 - 114486199 on Build GRCh38 | Gain | MIR455 AKNA WHRN ORM2 COL27A1 ORM1 |
More Information
Additional Information:
For this assay, SNP(s) [rs117592152] 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 Non-exonic DGV Variation |