Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 178458432-178458933 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
DFNB59
Entrez Gene ID
494513
Gene Name
deafness, autosomal recessive 59
Gene Aliases
PJVK
UniGene
Hs.87734
Gene Chromosome Location
Chr.2: 178450592-178461390 on Build GRCh38
Transcripts
NM_001042702.3 XM_005246627.2 XM_005246628.3 XM_005246629.3 XM_011511247.2 XM_011511249.2 XM_011511250.2 XM_011511251.1 XM_017004221.1 XM_017004222.1 XM_017004223.1 XM_017004224.1 XM_017004225.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5860689 c.575C>T p.P192L Chr.2: 178458535-178458535 on Build GRCh38
294304 c.654G>C p.L218L Chr.2: 178458614-178458614 on Build GRCh38
1291361 c.637G>T p.E213* Chr.2: 178458597-178458597 on Build GRCh38
3798212 c.579G>A p.K193K Chr.2: 178458539-178458539 on Build GRCh38
3407082 c.603C>T p.F201F Chr.2: 178458563-178458563 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs34861747 Chr.2: 178458889-178458890 on Build GRCh38
rs1000598511 Chr.2: 178458570-178458570 on Build GRCh38
rs955287895 Chr.2: 178458684-178458684 on Build GRCh38
rs542871573 Chr.2: 178458602-178458602 on Build GRCh38
rs757547201 Chr.2: 178458534-178458534 on Build GRCh38
rs762632126 Chr.2: 178458678-178458679 on Build GRCh38
rs746334353 Chr.2: 178458543-178458543 on Build GRCh38
rs915287950 Chr.2: 178458787-178458787 on Build GRCh38
rs758847935 Chr.2: 178458644-178458644 on Build GRCh38
rs190061266 Chr.2: 178458814-178458814 on Build GRCh38
rs767018373 Chr.2: 178458606-178458606 on Build GRCh38
rs766202719 Chr.2: 178458579-178458579 on Build GRCh38
rs751570778 Chr.2: 178458599-178458599 on Build GRCh38
rs550651487 Chr.2: 178458733-178458733 on Build GRCh38
rs1056704984 Chr.2: 178458863-178458863 on Build GRCh38
rs746186011 Chr.2: 178458632-178458632 on Build GRCh38
rs776107755 Chr.2: 178458548-178458548 on Build GRCh38
rs773164637 Chr.2: 178458573-178458573 on Build GRCh38
rs974129707 Chr.2: 178458791-178458791 on Build GRCh38
rs368930371 Chr.2: 178458608-178458608 on Build GRCh38
rs372265307 Chr.2: 178458622-178458622 on Build GRCh38
rs765067736 Chr.2: 178458566-178458566 on Build GRCh38
rs572674643 Chr.2: 178458545-178458545 on Build GRCh38
rs765866673 Chr.2: 178458489-178458489 on Build GRCh38
rs547302003 Chr.2: 178458833-178458833 on Build GRCh38
rs774006888 Chr.2: 178458736-178458736 on Build GRCh38
rs780412680 Chr.2: 178458675-178458675 on Build GRCh38
rs1011880580 Chr.2: 178458872-178458872 on Build GRCh38
rs760434475 Chr.2: 178458844-178458844 on Build GRCh38
rs375143518 Chr.2: 178458590-178458590 on Build GRCh38
rs986703007 Chr.2: 178458687-178458687 on Build GRCh38
rs116771324 Chr.2: 178458691-178458691 on Build GRCh38
rs561377502 Chr.2: 178458799-178458799 on Build GRCh38
rs202078173 Chr.2: 178458487-178458487 on Build GRCh38
rs1033295030 Chr.2: 178458636-178458636 on Build GRCh38
rs1014261268 Chr.2: 178458489-178458492 on Build GRCh38
rs138967124 Chr.2: 178458539-178458539 on Build GRCh38
rs545244882 Chr.2: 178458522-178458522 on Build GRCh38
rs534445243 Chr.2: 178458834-178458834 on Build GRCh38
rs766326145 Chr.2: 178458902-178458902 on Build GRCh38
rs762910563 Chr.2: 178458576-178458576 on Build GRCh38
rs762545687 Chr.2: 178458472-178458472 on Build GRCh38
rs1025933713 Chr.2: 178458633-178458633 on Build GRCh38
rs955115796 Chr.2: 178458723-178458723 on Build GRCh38
rs367707633 Chr.2: 178458798-178458798 on Build GRCh38
rs964652883 Chr.2: 178458722-178458722 on Build GRCh38
rs185593832 Chr.2: 178458553-178458553 on Build GRCh38
rs761505391 Chr.2: 178458758-178458758 on Build GRCh38
rs945211054 Chr.2: 178458859-178458859 on Build GRCh38
rs776993406 Chr.2: 178458557-178458557 on Build GRCh38
rs181771963 Chr.2: 178458840-178458840 on Build GRCh38
rs768212688 Chr.2: 178458646-178458646 on Build GRCh38
rs747862575 Chr.2: 178458528-178458528 on Build GRCh38
rs962780981 Chr.2: 178458492-178458492 on Build GRCh38
rs754564100 Chr.2: 178458519-178458519 on Build GRCh38
rs895421937 Chr.2: 178458864-178458864 on Build GRCh38
rs1029805170 Chr.2: 178458693-178458694 on Build GRCh38
rs750999970 Chr.2: 178458506-178458506 on Build GRCh38
rs755785248 Chr.2: 178458616-178458616 on Build GRCh38
rs1038452440 Chr.2: 178458876-178458876 on Build GRCh38
rs898237343 Chr.2: 178458907-178458907 on Build GRCh38
rs762131024 Chr.2: 178458563-178458563 on Build GRCh38
rs939572112 Chr.2: 178458835-178458835 on Build GRCh38
rs750319765 Chr.2: 178458475-178458475 on Build GRCh38

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