Assay Details
Target Gene Details
Entrez Gene ID: | 23504 |
Gene Name: | RIMS binding protein 2 |
Gene Aliases: |
PPP1R133, RBP2, RIM-BP2 |
Location: |
Chr.12:130396133-130716361 on Build GRCh38 |
Assay Gene Location: | Within Exon 21 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RIMBP2 | NM_015347.4 | 14 | 2697 | NP_056162.4 |
XM_011538102.1 | 16 | 3515 | XP_011536404.1 | |
XM_011538103.2 | 18 | 3977 | XP_011536405.1 | |
XM_011538104.2 | 18 | 3792 | XP_011536406.1 | |
XM_011538105.2 | 17 | 3249 | XP_011536407.1 | |
XM_011538106.2 | 16 | 3090 | XP_011536408.1 | |
XM_017019105.1 | 18 | 3990 | XP_016874594.1 | |
XM_017019106.1 | 17 | 3249 | XP_016874595.1 | |
XM_017019107.1 | 17 | 3071 | XP_016874596.1 | |
XM_017019108.1 | 17 | 3254 | XP_016874597.1 | |
XM_017019109.1 | 15 | 2798 | XP_016874598.1 | |
XM_017019110.1 | 17 | 3071 | XP_016874599.1 | |
XM_017019111.1 | 17 | 3071 | XP_016874600.1 | |
AB002316.1 | 14 | 2697 | ||
AY699979.1 | 11 | 2388 | ||
BX641152.1 | 1 | 7426 | CAE46066.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv560744 | Chr.12:130395238 - 130790045 on Build GRCh38 | Gain | RIMBP2 PIWIL1 STX2 |
nsv509489 | Chr.12:130413069 - 130493707 on Build GRCh38 | Insertion | RIMBP2 |
nsv818938 | Chr.12:130382306 - 130426671 on Build GRCh38 | Gain | RIMBP2 PIWIL1 |
esv3582027 | Chr.12:130227822 - 130722407 on Build GRCh38 | Gain | RIMBP2 PIWIL1 |
esv3631200 | Chr.12:130375734 - 130607674 on Build GRCh38 | Gain | RIMBP2 PIWIL1 |
esv34208 | Chr.12:129528244 - 130603882 on Build GRCh38 | Gain | RIMBP2 FZD10-AS1 PIWIL1 TMEM132D FZD10 LOC100190940 |
dgv2977n54 | Chr.12:130222462 - 130829669 on Build GRCh38 | Gain | RIMBP2 PIWIL1 STX2 |
nsv560735 | Chr.12:129710094 - 130478603 on Build GRCh38 | Gain | RIMBP2 FZD10-AS1 PIWIL1 TMEM132D FZD10 LOC100190940 |
esv2759921 | Chr.12:129461919 - 130631031 on Build GRCh38 | Gain+Loss | RIMBP2 FZD10-AS1 PIWIL1 TMEM132D FZD10 LOC100190940 |
nsv1044909 | Chr.12:130407618 - 130447144 on Build GRCh38 | Gain | RIMBP2 PIWIL1 |
nsv469863 | Chr.12:130350018 - 130554797 on Build GRCh38 | Gain | RIMBP2 PIWIL1 |
nsv1037230 | Chr.12:130378621 - 130425847 on Build GRCh38 | Gain | RIMBP2 PIWIL1 |
More Information
Additional Information:
For this assay, SNP(s) [rs114594741] 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 |