Product Details

Primer Sequences
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Primer Chromosome Location
Chr.12: 76345743-76346016 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
BBS10
Entrez Gene ID
79738
Gene Name
Bardet-Biedl syndrome 10
Gene Aliases
C12orf58
UniGene
Hs.96322
Gene Chromosome Location
Chr.12: 76344486-76348442 on Build GRCh38
Transcripts
NM_024685.3

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4044886 c.1991C>T p.A664V Chr.12: 76345994-76345994 on Build GRCh38
1705953 c.2099C>T p.T700I Chr.12: 76345886-76345886 on Build GRCh38
6256153 c.2087C>A p.T696K Chr.12: 76345898-76345898 on Build GRCh38
5018377 c.2149delC p.Q717fs*>7 Chr.12: 76345836-76345836 on Build GRCh38
268040 c.2079G>T p.Q693H Chr.12: 76345906-76345906 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs780577003 Chr.12: 76345858-76345859 on Build GRCh38
rs746226798 Chr.12: 76345788-76345788 on Build GRCh38
rs202134724 Chr.12: 76345853-76345853 on Build GRCh38
rs1003705267 Chr.12: 76345818-76345818 on Build GRCh38
rs765430406 Chr.12: 76345891-76345891 on Build GRCh38
rs756069503 Chr.12: 76345937-76345937 on Build GRCh38
rs980951815 Chr.12: 76345871-76345871 on Build GRCh38
rs775950661 Chr.12: 76345865-76345866 on Build GRCh38
rs763954144 Chr.12: 76345954-76345954 on Build GRCh38
rs915187837 Chr.12: 76345918-76345918 on Build GRCh38
rs1034845818 Chr.12: 76345824-76345824 on Build GRCh38
rs753323987 Chr.12: 76345973-76345973 on Build GRCh38
rs767464284 Chr.12: 76345923-76345923 on Build GRCh38
rs759387000 Chr.12: 76345920-76345920 on Build GRCh38
rs142140276 Chr.12: 76345982-76345982 on Build GRCh38
rs747553162 Chr.12: 76345819-76345819 on Build GRCh38
rs772133951 Chr.12: 76345807-76345807 on Build GRCh38
rs968389636 Chr.12: 76345926-76345926 on Build GRCh38
rs959224608 Chr.12: 76345829-76345829 on Build GRCh38
rs555921898 Chr.12: 76345952-76345952 on Build GRCh38
rs772482454 Chr.12: 76345809-76345809 on Build GRCh38
rs778436261 Chr.12: 76345781-76345781 on Build GRCh38
rs769179905 Chr.12: 76345841-76345841 on Build GRCh38
rs752574665 Chr.12: 76345930-76345930 on Build GRCh38
rs750972045 Chr.12: 76345915-76345915 on Build GRCh38
rs778614911 Chr.12: 76345981-76345981 on Build GRCh38
rs761809528 Chr.12: 76345885-76345885 on Build GRCh38
rs756784644 Chr.12: 76345980-76345980 on Build GRCh38
rs773369813 Chr.12: 76345904-76345904 on Build GRCh38
rs745903306 Chr.12: 76345805-76345805 on Build GRCh38

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