Product Details

Primer Sequences
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Primer Chromosome Location
Chr.19: 17256602-17256829 on Build GRCh38
Format
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
Primer Designer™ Tool Quick Reference
Ampliseq ID's

Gene Details

Gene Symbol
USHBP1
Entrez Gene ID
83878
Gene Name
USH1 protein network component harmonin binding protein 1
Gene Aliases
AIEBP, MCC2
UniGene
Hs.512773
Gene Chromosome Location
Chr.19: 17250021-17264796 on Build GRCh38
Transcripts
NM_001297703.1 NM_001321417.1 NM_031941.3 NR_135632.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1231940 c.1246C>T p.P416S Chr.19: 17256695-17256695 on Build GRCh38
6378368 c.1265C>T p.A422V Chr.19: 17256676-17256676 on Build GRCh38
992731 c.1306C>T p.R436C Chr.19: 17256635-17256635 on Build GRCh38
992730 c.1320G>T p.K440N Chr.19: 17256621-17256621 on Build GRCh38
4404535 c.1319A>C p.K440T Chr.19: 17256622-17256622 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs975198073 Chr.19: 17256680-17256680 on Build GRCh38
rs184887926 Chr.19: 17256650-17256650 on Build GRCh38
rs138101103 Chr.19: 17256634-17256634 on Build GRCh38
rs985641448 Chr.19: 17256696-17256696 on Build GRCh38
rs112158497 Chr.19: 17256688-17256688 on Build GRCh38
rs759916613 Chr.19: 17256691-17256691 on Build GRCh38
rs749678287 Chr.19: 17256769-17256769 on Build GRCh38
rs376823247 Chr.19: 17256767-17256767 on Build GRCh38
rs763089368 Chr.19: 17256637-17256637 on Build GRCh38
rs374430452 Chr.19: 17256670-17256670 on Build GRCh38
rs752167280 Chr.19: 17256750-17256750 on Build GRCh38
rs757466390 Chr.19: 17256647-17256647 on Build GRCh38
rs149531997 Chr.19: 17256701-17256701 on Build GRCh38
rs746568447 Chr.19: 17256673-17256673 on Build GRCh38
rs745541798 Chr.19: 17256759-17256759 on Build GRCh38
rs56097600 Chr.19: 17256707-17256707 on Build GRCh38
rs372170885 Chr.19: 17256659-17256659 on Build GRCh38
rs778658793 Chr.19: 17256723-17256723 on Build GRCh38
rs758352194 Chr.19: 17256742-17256742 on Build GRCh38
rs770356151 Chr.19: 17256754-17256754 on Build GRCh38
rs769616993 Chr.19: 17256766-17256766 on Build GRCh38
rs771954436 Chr.19: 17256664-17256664 on Build GRCh38
rs754726215 Chr.19: 17256716-17256716 on Build GRCh38
rs767567532 Chr.19: 17256712-17256712 on Build GRCh38
rs9676419 Chr.19: 17256626-17256626 on Build GRCh38
rs371125652 Chr.19: 17256804-17256804 on Build GRCh38
rs780955541 Chr.19: 17256756-17256756 on Build GRCh38
rs887880441 Chr.19: 17256802-17256802 on Build GRCh38
rs762190493 Chr.19: 17256649-17256649 on Build GRCh38
rs201299465 Chr.19: 17256638-17256638 on Build GRCh38
rs751636753 Chr.19: 17256640-17256640 on Build GRCh38
rs190092119 Chr.19: 17256780-17256780 on Build GRCh38
rs770607962 Chr.19: 17256675-17256675 on Build GRCh38
rs554537226 Chr.19: 17256732-17256733 on Build GRCh38
rs777306692 Chr.19: 17256665-17256665 on Build GRCh38
rs769190213 Chr.19: 17256770-17256770 on Build GRCh38
rs538065578 Chr.19: 17256721-17256721 on Build GRCh38
rs567845003 Chr.19: 17256695-17256695 on Build GRCh38
rs941375545 Chr.19: 17256799-17256799 on Build GRCh38
rs778753030 Chr.19: 17256658-17256658 on Build GRCh38
rs111701936 Chr.19: 17256731-17256731 on Build GRCh38
rs760039499 Chr.19: 17256631-17256631 on Build GRCh38
rs746473547 Chr.19: 17256747-17256747 on Build GRCh38
rs922477969 Chr.19: 17256724-17256724 on Build GRCh38
rs377196425 Chr.19: 17256622-17256622 on Build GRCh38
rs765784898 Chr.19: 17256632-17256632 on Build GRCh38
rs1001609572 Chr.19: 17256786-17256786 on Build GRCh38
rs764545397 Chr.19: 17256700-17256700 on Build GRCh38
rs4464206 Chr.19: 17256776-17256776 on Build GRCh38
rs556300979 Chr.19: 17256745-17256745 on Build GRCh38

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