Product Details

Primer Sequences
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Primer Chromosome Location
Chr.16: 56470396-56470839 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
BBS2
Entrez Gene ID
583
Gene Name
Bardet-Biedl syndrome 2
Gene Aliases
BBS, RP74
UniGene
Hs.333738
Gene Chromosome Location
Chr.16: 56470403-56520096 on Build GRCh38
Transcripts
XM_005256080.2 NM_001324357.1 NM_001324358.1 NM_001324359.1 NM_001324360.1 NM_001324361.1 NM_001324362.1 NM_001324363.1 NM_018233.3

Gene Symbol
OGFOD1
Entrez Gene ID
55239
Gene Name
2-oxoglutarate and iron dependent oxygenase domain containing 1
Gene Aliases
TPA1
UniGene
Hs.231883
Gene Chromosome Location
Chr.16: 56451480-56477495 on Build GRCh38
Transcripts
XM_005256080.2 NM_001324357.1 NM_001324358.1 NM_001324359.1 NM_001324360.1 NM_001324361.1 NM_001324362.1 NM_001324363.1 NM_018233.3

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1609430 c.1091A>G p.K364R Chr.16: 56470597-56470597 on Build GRCh38
7337799 c.1187C>T p.P396L Chr.16: 56470693-56470693 on Build GRCh38
6477134 c.1051G>C p.E351Q Chr.16: 56470557-56470557 on Build GRCh38
5733249 c.1075A>C p.N359H Chr.16: 56470581-56470581 on Build GRCh38
5851072 c.1038G>C p.K346N Chr.16: 56470544-56470544 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs746735521 Chr.16: 56470576-56470576 on Build GRCh38
rs772151135 Chr.16: 56470773-56470773 on Build GRCh38
rs367724006 Chr.16: 56470619-56470619 on Build GRCh38
rs763734158 Chr.16: 56470697-56470697 on Build GRCh38
rs766962558 Chr.16: 56470727-56470727 on Build GRCh38
rs752342094 Chr.16: 56470437-56470437 on Build GRCh38
rs773631464 Chr.16: 56470535-56470535 on Build GRCh38
rs759952734 Chr.16: 56470692-56470692 on Build GRCh38
rs756483239 Chr.16: 56470678-56470681 on Build GRCh38
rs751256753 Chr.16: 56470707-56470707 on Build GRCh38
rs779342820 Chr.16: 56470646-56470646 on Build GRCh38
rs779713615 Chr.16: 56470629-56470629 on Build GRCh38
rs142800758 Chr.16: 56470560-56470560 on Build GRCh38
rs756969874 Chr.16: 56470812-56470813 on Build GRCh38
rs372564103 Chr.16: 56470761-56470761 on Build GRCh38
rs548980919 Chr.16: 56470641-56470641 on Build GRCh38
rs753606520 Chr.16: 56470806-56470806 on Build GRCh38
rs768062295 Chr.16: 56470529-56470529 on Build GRCh38
rs532703011 Chr.16: 56470521-56470521 on Build GRCh38
rs565472876 Chr.16: 56470425-56470425 on Build GRCh38
rs375000637 Chr.16: 56470620-56470622 on Build GRCh38
rs148627729 Chr.16: 56470754-56470754 on Build GRCh38
rs369092503 Chr.16: 56470440-56470440 on Build GRCh38
rs748206071 Chr.16: 56470662-56470662 on Build GRCh38
rs753679124 Chr.16: 56470745-56470745 on Build GRCh38
rs142122677 Chr.16: 56470809-56470809 on Build GRCh38
rs766511528 Chr.16: 56470510-56470511 on Build GRCh38
rs181408838 Chr.16: 56470782-56470782 on Build GRCh38
rs547692853 Chr.16: 56470551-56470551 on Build GRCh38
rs143949400 Chr.16: 56470733-56470733 on Build GRCh38
rs760011319 Chr.16: 56470651-56470652 on Build GRCh38
rs761116770 Chr.16: 56470680-56470680 on Build GRCh38
rs763538313 Chr.16: 56470569-56470569 on Build GRCh38
rs201458526 Chr.16: 56470797-56470797 on Build GRCh38
rs756829888 Chr.16: 56470582-56470582 on Build GRCh38
rs368111435 Chr.16: 56470474-56470474 on Build GRCh38
rs771260190 Chr.16: 56470681-56470681 on Build GRCh38
rs370136242 Chr.16: 56470552-56470552 on Build GRCh38
rs774583609 Chr.16: 56470527-56470527 on Build GRCh38
rs757201679 Chr.16: 56470473-56470473 on Build GRCh38
rs1051776543 Chr.16: 56470696-56470696 on Build GRCh38
rs756015760 Chr.16: 56470739-56470739 on Build GRCh38
rs748402653 Chr.16: 56470772-56470772 on Build GRCh38
rs148423012 Chr.16: 56470679-56470679 on Build GRCh38
rs991360327 Chr.16: 56470445-56470445 on Build GRCh38
rs746882751 Chr.16: 56470444-56470444 on Build GRCh38
rs745674135 Chr.16: 56470478-56470478 on Build GRCh38
rs776994437 Chr.16: 56470683-56470683 on Build GRCh38
rs372147361 Chr.16: 56470708-56470708 on Build GRCh38
rs753037088 Chr.16: 56470664-56470665 on Build GRCh38
rs147413665 Chr.16: 56470618-56470618 on Build GRCh38
rs777584325 Chr.16: 56470764-56470764 on Build GRCh38
rs768021183 Chr.16: 56470661-56470661 on Build GRCh38
rs777190838 Chr.16: 56470808-56470808 on Build GRCh38
rs556407118 Chr.16: 56470796-56470796 on Build GRCh38
rs189415203 Chr.16: 56470423-56470423 on Build GRCh38
rs536261215 Chr.16: 56470667-56470667 on Build GRCh38
rs772091431 Chr.16: 56470668-56470668 on Build GRCh38
rs200411312 Chr.16: 56470561-56470561 on Build GRCh38
rs13337155 Chr.16: 56470812-56470812 on Build GRCh38
rs781156955 Chr.16: 56470592-56470592 on Build GRCh38
rs752306603 Chr.16: 56470554-56470554 on Build GRCh38
rs775762488 Chr.16: 56470519-56470519 on Build GRCh38
rs749548323 Chr.16: 56470520-56470520 on Build GRCh38
rs777297073 Chr.16: 56470443-56470443 on Build GRCh38
rs3217263 Chr.16: 56470625-56470627 on Build GRCh38
rs780194961 Chr.16: 56470741-56470741 on Build GRCh38
rs769521855 Chr.16: 56470489-56470489 on Build GRCh38
rs747717724 Chr.16: 56470804-56470804 on Build GRCh38

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