Product Details

Primer Sequences
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Primer Chromosome Location
Chr.13: 20188607-20189120 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
GJB2
Entrez Gene ID
2706
Gene Name
gap junction protein beta 2
Gene Aliases
CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
UniGene
Hs.524894
Gene Chromosome Location
Chr.13: 20187463-20192975 on Build GRCh38
Transcripts
NM_004004.5 XM_011535049.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
7128502 c.628T>G p.L210V Chr.13: 20188954-20188954 on Build GRCh38
4638508 c.589G>T p.A197S Chr.13: 20188993-20188993 on Build GRCh38
1365741 c.671_672insA p.P225fs*>3 Chr.13: 20188910-20188911 on Build GRCh38
5942539 c.673C>T p.P225S Chr.13: 20188909-20188909 on Build GRCh38
229250 c.585G>A p.M195I Chr.13: 20188997-20188997 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs80338950 Chr.13: 20189031-20189031 on Build GRCh38
rs773528125 Chr.13: 20189070-20189071 on Build GRCh38
rs557953001 Chr.13: 20188786-20188786 on Build GRCh38
rs540815670 Chr.13: 20188832-20188832 on Build GRCh38
rs188027627 Chr.13: 20188805-20188805 on Build GRCh38
rs774107664 Chr.13: 20188768-20188768 on Build GRCh38
rs958849318 Chr.13: 20188963-20188963 on Build GRCh38
rs111033194 Chr.13: 20188912-20188912 on Build GRCh38
rs990380831 Chr.13: 20188701-20188701 on Build GRCh38
rs587783646 Chr.13: 20188949-20188950 on Build GRCh38
rs768407446 Chr.13: 20188902-20188902 on Build GRCh38
rs765172751 Chr.13: 20188995-20188995 on Build GRCh38
rs111033327 Chr.13: 20188900-20188900 on Build GRCh38
rs759708388 Chr.13: 20188771-20188771 on Build GRCh38
rs786204597 Chr.13: 20188984-20188984 on Build GRCh38
rs752236261 Chr.13: 20189036-20189036 on Build GRCh38
rs771632395 Chr.13: 20188688-20188688 on Build GRCh38
rs754515919 Chr.13: 20188866-20188869 on Build GRCh38
rs755875741 Chr.13: 20189021-20189021 on Build GRCh38
rs982521629 Chr.13: 20188712-20188712 on Build GRCh38
rs759683824 Chr.13: 20188994-20188994 on Build GRCh38
rs746294614 Chr.13: 20189057-20189057 on Build GRCh38
rs907581341 Chr.13: 20188809-20188809 on Build GRCh38
rs901550257 Chr.13: 20188652-20188652 on Build GRCh38
rs928710018 Chr.13: 20188754-20188754 on Build GRCh38
rs532203068 Chr.13: 20188999-20188999 on Build GRCh38
rs763068053 Chr.13: 20189072-20189072 on Build GRCh38
rs773768026 Chr.13: 20188988-20188988 on Build GRCh38
rs199790409 Chr.13: 20189016-20189016 on Build GRCh38
rs779607423 Chr.13: 20188899-20188899 on Build GRCh38
rs976409791 Chr.13: 20188634-20188634 on Build GRCh38
rs375599392 Chr.13: 20188919-20188919 on Build GRCh38
rs756962156 Chr.13: 20188867-20188867 on Build GRCh38
rs749675121 Chr.13: 20189072-20189073 on Build GRCh38
rs76838169 Chr.13: 20188974-20188974 on Build GRCh38
rs951136665 Chr.13: 20188696-20188696 on Build GRCh38
rs779948837 Chr.13: 20188956-20188956 on Build GRCh38
rs984555255 Chr.13: 20188985-20188985 on Build GRCh38
rs747353660 Chr.13: 20188989-20188989 on Build GRCh38
rs771748289 Chr.13: 20188986-20188986 on Build GRCh38
rs981405605 Chr.13: 20188740-20188740 on Build GRCh38
rs1037871655 Chr.13: 20188765-20188765 on Build GRCh38
rs370868313 Chr.13: 20188906-20188906 on Build GRCh38
rs998045226 Chr.13: 20189032-20189032 on Build GRCh38
rs150217043 Chr.13: 20188932-20188932 on Build GRCh38
rs899636227 Chr.13: 20189026-20189026 on Build GRCh38
rs751408737 Chr.13: 20188866-20188866 on Build GRCh38
rs201983374 Chr.13: 20189082-20189082 on Build GRCh38
rs111033335 Chr.13: 20188982-20188990 on Build GRCh38
rs55704559 Chr.13: 20188733-20188733 on Build GRCh38
rs922232025 Chr.13: 20188665-20188665 on Build GRCh38
rs111033360 Chr.13: 20189083-20189083 on Build GRCh38
rs770116143 Chr.13: 20189017-20189018 on Build GRCh38
rs757699303 Chr.13: 20189092-20189092 on Build GRCh38
rs568612627 Chr.13: 20189049-20189049 on Build GRCh38
rs757510867 Chr.13: 20188910-20188910 on Build GRCh38
rs182085649 Chr.13: 20188787-20188787 on Build GRCh38
rs769416676 Chr.13: 20188719-20188719 on Build GRCh38
rs189792278 Chr.13: 20188784-20188784 on Build GRCh38
rs530484784 Chr.13: 20188940-20188940 on Build GRCh38
rs397516878 Chr.13: 20189011-20189011 on Build GRCh38
rs766975999 Chr.13: 20188917-20188917 on Build GRCh38
rs794727271 Chr.13: 20189000-20189000 on Build GRCh38
rs774518779 Chr.13: 20189076-20189076 on Build GRCh38
rs570552952 Chr.13: 20188997-20188997 on Build GRCh38
rs587783647 Chr.13: 20188932-20188935 on Build GRCh38
rs771372934 Chr.13: 20189053-20189053 on Build GRCh38
rs776899164 Chr.13: 20188918-20188918 on Build GRCh38
rs916822007 Chr.13: 20188767-20188767 on Build GRCh38
rs777236559 Chr.13: 20188993-20188993 on Build GRCh38
rs765660346 Chr.13: 20188955-20188955 on Build GRCh38
rs201004645 Chr.13: 20189071-20189071 on Build GRCh38
rs80338949 Chr.13: 20189095-20189095 on Build GRCh38
rs996377279 Chr.13: 20188656-20188656 on Build GRCh38
rs200104362 Chr.13: 20189079-20189079 on Build GRCh38
rs557786153 Chr.13: 20188820-20188820 on Build GRCh38
rs757090268 Chr.13: 20188933-20188933 on Build GRCh38
rs1057517508 Chr.13: 20189068-20189068 on Build GRCh38
rs1020334531 Chr.13: 20188703-20188703 on Build GRCh38
rs3751385 Chr.13: 20188817-20188817 on Build GRCh38
rs753674300 Chr.13: 20189025-20189025 on Build GRCh38
rs770330002 Chr.13: 20189068-20189068 on Build GRCh38
rs767233008 Chr.13: 20188935-20188935 on Build GRCh38
rs758171036 Chr.13: 20189045-20189045 on Build GRCh38
rs192824498 Chr.13: 20188846-20188846 on Build GRCh38
rs563151740 Chr.13: 20188907-20188907 on Build GRCh38
rs770765291 Chr.13: 20188760-20188760 on Build GRCh38
rs771604140 Chr.13: 20188991-20188991 on Build GRCh38
rs752812448 Chr.13: 20188929-20188929 on Build GRCh38
rs998066228 Chr.13: 20188834-20188834 on Build GRCh38
rs781210752 Chr.13: 20188892-20188892 on Build GRCh38
rs754533609 Chr.13: 20189027-20189027 on Build GRCh38
rs104894406 Chr.13: 20188977-20188977 on Build GRCh38
rs750216973 Chr.13: 20188937-20188937 on Build GRCh38
rs376898963 Chr.13: 20189089-20189089 on Build GRCh38
rs777588424 Chr.13: 20189088-20189088 on Build GRCh38
rs745748793 Chr.13: 20188897-20188897 on Build GRCh38
rs876657693 Chr.13: 20189049-20189059 on Build GRCh38
rs111033460 Chr.13: 20188898-20188898 on Build GRCh38
rs760807742 Chr.13: 20188844-20188844 on Build GRCh38
rs747685846 Chr.13: 20188979-20188979 on Build GRCh38
rs781767722 Chr.13: 20189056-20189056 on Build GRCh38
rs547195492 Chr.13: 20189024-20189024 on Build GRCh38
rs760489970 Chr.13: 20189077-20189077 on Build GRCh38
rs576671031 Chr.13: 20188823-20188823 on Build GRCh38
rs1057517521 Chr.13: 20189006-20189007 on Build GRCh38
rs765196144 Chr.13: 20189080-20189080 on Build GRCh38
rs754409855 Chr.13: 20188970-20188970 on Build GRCh38
rs773846324 Chr.13: 20188905-20188905 on Build GRCh38
rs7337074 Chr.13: 20188797-20188797 on Build GRCh38
rs571065102 Chr.13: 20188732-20188732 on Build GRCh38
rs112399473 Chr.13: 20188856-20188856 on Build GRCh38
rs7329857 Chr.13: 20188790-20188790 on Build GRCh38
rs1036073348 Chr.13: 20188954-20188954 on Build GRCh38
rs537986752 Chr.13: 20188661-20188661 on Build GRCh38
rs111033294 Chr.13: 20188965-20188965 on Build GRCh38
rs368602109 Chr.13: 20188926-20188926 on Build GRCh38
rs893884933 Chr.13: 20189015-20189015 on Build GRCh38
rs28931595 Chr.13: 20189047-20189047 on Build GRCh38
rs747847191 Chr.13: 20189006-20189006 on Build GRCh38

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