Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 43064965-43065493 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
CBS
Entrez Gene ID
875
Gene Name
cystathionine-beta-synthase
Gene Aliases
HIP4
UniGene
Hs.533013
Gene Chromosome Location
Chr.21: 43053190-43076868 on Build GRCh38
Transcripts
NM_000071.2 NM_001178008.2 NM_001178009.2 NM_001320298.1 NM_001321072.1 XM_011529773.2 XM_011529774.2 XM_011529775.2 XM_011529776.2 XM_011529777.1 XM_011529781.1 XM_011529782.1 XM_011529783.2 XM_017028489.1 XM_017028490.1 XM_017028491.1 XM_017028492.1 XM_017028493.1 NM_001321073.1 XM_011546094.1 XM_011546095.2 XM_011546097.2 XM_011546098.1 XM_011546099.1 XM_017028209.1 XM_017028210.1 XM_017028211.1 XM_017028212.1 XM_017028213.1 XM_017028214.1 XM_017028215.1 XM_017028216.1 XM_017028217.1 XM_017028218.1 XM_017028222.1 XM_017028224.1

Gene Symbol
CBSL
Entrez Gene ID
102724560
Gene Name
cystathionine-beta-synthase like
Gene Aliases
-
UniGene
Hs.533013
Gene Chromosome Location
Chr.21: 6444868-6468606 on Build GRCh38
Transcripts
NM_000071.2 NM_001178008.2 NM_001178009.2 NM_001320298.1 NM_001321072.1 XM_011529773.2 XM_011529774.2 XM_011529775.2 XM_011529776.2 XM_011529777.1 XM_011529781.1 XM_011529782.1 XM_011529783.2 XM_017028489.1 XM_017028490.1 XM_017028491.1 XM_017028492.1 XM_017028493.1 NM_001321073.1 XM_011546094.1 XM_011546095.2 XM_011546097.2 XM_011546098.1 XM_011546099.1 XM_017028209.1 XM_017028210.1 XM_017028211.1 XM_017028212.1 XM_017028213.1 XM_017028214.1 XM_017028215.1 XM_017028216.1 XM_017028217.1 XM_017028218.1 XM_017028222.1 XM_017028224.1

Gene Symbol
LOC102724843
Entrez Gene ID
102724843
Gene Name
uncharacterized LOC102724843
Gene Aliases
-
UniGene
Hs.743984
Gene Chromosome Location
Chr.21: 6318410-7087230 on Build GRCh38
Transcripts
NM_000071.2 NM_001178008.2 NM_001178009.2 NM_001320298.1 NM_001321072.1 XM_011529773.2 XM_011529774.2 XM_011529775.2 XM_011529776.2 XM_011529777.1 XM_011529781.1 XM_011529782.1 XM_011529783.2 XM_017028489.1 XM_017028490.1 XM_017028491.1 XM_017028492.1 XM_017028493.1 NM_001321073.1 XM_011546094.1 XM_011546095.2 XM_011546097.2 XM_011546098.1 XM_011546099.1 XM_017028209.1 XM_017028210.1 XM_017028211.1 XM_017028212.1 XM_017028213.1 XM_017028214.1 XM_017028215.1 XM_017028216.1 XM_017028217.1 XM_017028218.1 XM_017028222.1 XM_017028224.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1031120 c.670C>T p.R224C Chr.21: 43065269-43065269 on Build GRCh38
2820091 c.675C>T p.N225N Chr.21: 43065264-43065264 on Build GRCh38
4669550 c.625C>T p.R209W Chr.21: 43065428-43065428 on Build GRCh38
2820092 c.641T>A p.I214N Chr.21: 43065412-43065412 on Build GRCh38
6866489 c.599C>A p.P200Q Chr.21: 43065454-43065454 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs773114442 Chr.21: 43065438-43065438 on Build GRCh38
rs574020196 Chr.21: 43065059-43065059 on Build GRCh38
rs958154642 Chr.21: 43065050-43065050 on Build GRCh38
rs774174074 Chr.21: 43065429-43065429 on Build GRCh38
rs1057517435 Chr.21: 43065231-43065232 on Build GRCh38
rs367714544 Chr.21: 43065156-43065156 on Build GRCh38
rs769190868 Chr.21: 43065320-43065320 on Build GRCh38
rs758712880 Chr.21: 43065454-43065454 on Build GRCh38
rs376011228 Chr.21: 43065282-43065285 on Build GRCh38
rs757332652 Chr.21: 43065196-43065196 on Build GRCh38
rs1019767884 Chr.21: 43065009-43065009 on Build GRCh38
rs200135909 Chr.21: 43065187-43065187 on Build GRCh38
rs555751528 Chr.21: 43065465-43065465 on Build GRCh38
rs750518463 Chr.21: 43065198-43065198 on Build GRCh38
rs201118737 Chr.21: 43065421-43065421 on Build GRCh38
rs746032778 Chr.21: 43065363-43065363 on Build GRCh38
rs1021024247 Chr.21: 43065368-43065368 on Build GRCh38
rs375730175 Chr.21: 43065254-43065254 on Build GRCh38
rs764160782 Chr.21: 43065279-43065286 on Build GRCh38
rs748548648 Chr.21: 43065308-43065308 on Build GRCh38
rs755248336 Chr.21: 43065297-43065297 on Build GRCh38
rs201727754 Chr.21: 43065197-43065197 on Build GRCh38
rs747489523 Chr.21: 43065318-43065318 on Build GRCh38
rs781759129 Chr.21: 43065427-43065427 on Build GRCh38
rs893857042 Chr.21: 43065345-43065345 on Build GRCh38
rs2298758 Chr.21: 43065417-43065417 on Build GRCh38
rs527345120 Chr.21: 43065158-43065158 on Build GRCh38
rs773734233 Chr.21: 43065239-43065239 on Build GRCh38
rs752866551 Chr.21: 43065411-43065411 on Build GRCh38
rs758703098 Chr.21: 43065416-43065416 on Build GRCh38
rs372797469 Chr.21: 43065222-43065222 on Build GRCh38
rs372679328 Chr.21: 43065443-43065443 on Build GRCh38
rs780174430 Chr.21: 43065204-43065204 on Build GRCh38
rs192433213 Chr.21: 43065014-43065014 on Build GRCh38
rs772441451 Chr.21: 43065313-43065313 on Build GRCh38
rs766287816 Chr.21: 43065380-43065380 on Build GRCh38
rs145303290 Chr.21: 43065264-43065264 on Build GRCh38
rs142313595 Chr.21: 43065444-43065444 on Build GRCh38
rs1034007575 Chr.21: 43065409-43065409 on Build GRCh38
rs755015303 Chr.21: 43065406-43065406 on Build GRCh38
rs988505594 Chr.21: 43065100-43065100 on Build GRCh38
rs767297461 Chr.21: 43065365-43065365 on Build GRCh38
rs780126785 Chr.21: 43065290-43065290 on Build GRCh38
rs559535352 Chr.21: 43065151-43065151 on Build GRCh38
rs371835771 Chr.21: 43065343-43065343 on Build GRCh38
rs748495689 Chr.21: 43065231-43065231 on Build GRCh38
rs751280675 Chr.21: 43065323-43065324 on Build GRCh38
rs760597046 Chr.21: 43065378-43065378 on Build GRCh38
rs756191746 Chr.21: 43065199-43065199 on Build GRCh38
rs762541671 Chr.21: 43065341-43065341 on Build GRCh38
rs761647392 Chr.21: 43065268-43065268 on Build GRCh38
rs539670390 Chr.21: 43065441-43065441 on Build GRCh38
rs184873660 Chr.21: 43065340-43065340 on Build GRCh38
rs139456571 Chr.21: 43065269-43065269 on Build GRCh38
rs749466749 Chr.21: 43065210-43065210 on Build GRCh38
rs747781039 Chr.21: 43065435-43065435 on Build GRCh38
rs756173654 Chr.21: 43065287-43065287 on Build GRCh38
rs911670352 Chr.21: 43065472-43065472 on Build GRCh38
rs775351239 Chr.21: 43065250-43065250 on Build GRCh38
rs1032831410 Chr.21: 43065041-43065041 on Build GRCh38
rs765471315 Chr.21: 43065410-43065410 on Build GRCh38
rs863223430 Chr.21: 43065201-43065201 on Build GRCh38
rs752353168 Chr.21: 43065168-43065168 on Build GRCh38
rs766436874 Chr.21: 43065173-43065173 on Build GRCh38
rs137939628 Chr.21: 43065428-43065428 on Build GRCh38
rs753907201 Chr.21: 43065296-43065296 on Build GRCh38
rs769298649 Chr.21: 43065252-43065252 on Build GRCh38
rs763835246 Chr.21: 43065263-43065263 on Build GRCh38
rs778164782 Chr.21: 43065317-43065317 on Build GRCh38
rs752611922 Chr.21: 43065195-43065195 on Build GRCh38
rs779081730 Chr.21: 43065300-43065300 on Build GRCh38
rs537027536 Chr.21: 43065461-43065461 on Build GRCh38
rs762862506 Chr.21: 43065169-43065169 on Build GRCh38
rs234706 Chr.21: 43065240-43065240 on Build GRCh38
rs764837286 Chr.21: 43065163-43065163 on Build GRCh38
rs774116954 Chr.21: 43065360-43065360 on Build GRCh38
rs900113922 Chr.21: 43065339-43065339 on Build GRCh38
rs890142133 Chr.21: 43065305-43065305 on Build GRCh38
rs564895700 Chr.21: 43065033-43065033 on Build GRCh38
rs750338571 Chr.21: 43065276-43065276 on Build GRCh38
rs769024492 Chr.21: 43065219-43065219 on Build GRCh38
rs981981270 Chr.21: 43065232-43065232 on Build GRCh38
rs773040114 Chr.21: 43065377-43065377 on Build GRCh38
rs964548412 Chr.21: 43065013-43065013 on Build GRCh38
rs181472622 Chr.21: 43065453-43065453 on Build GRCh38
rs764210379 Chr.21: 43065456-43065456 on Build GRCh38
rs775293525 Chr.21: 43065253-43065253 on Build GRCh38
rs761547974 Chr.21: 43065361-43065361 on Build GRCh38
rs369220569 Chr.21: 43065437-43065437 on Build GRCh38
rs753964840 Chr.21: 43065390-43065390 on Build GRCh38
rs541197505 Chr.21: 43065101-43065101 on Build GRCh38

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