Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 43068226-43068717 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 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 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 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
4917365 c.310G>T p.E104* Chr.21: 43068515-43068515 on Build GRCh38
4669552 c.257A>G p.D86G Chr.21: 43068568-43068568 on Build GRCh38
7318401 c.310G>A p.E104K Chr.21: 43068515-43068515 on Build GRCh38
4818840 c.286G>T p.G96W Chr.21: 43068539-43068539 on Build GRCh38
5949151 c.212C>A p.A71E Chr.21: 43068613-43068613 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs192232907 Chr.21: 43068610-43068610 on Build GRCh38
rs764157942 Chr.21: 43068459-43068459 on Build GRCh38
rs747248232 Chr.21: 43068646-43068646 on Build GRCh38
rs5844149 Chr.21: 43068645-43068646 on Build GRCh38
rs779398620 Chr.21: 43068666-43068666 on Build GRCh38
rs71320602 Chr.21: 43068397-43068397 on Build GRCh38
rs529977190 Chr.21: 43068435-43068435 on Build GRCh38
rs773358651 Chr.21: 43068644-43068645 on Build GRCh38
rs786204757 Chr.21: 43068523-43068523 on Build GRCh38
rs755336476 Chr.21: 43068659-43068659 on Build GRCh38
rs112029370 Chr.21: 43068529-43068529 on Build GRCh38
rs759702114 Chr.21: 43068646-43068647 on Build GRCh38
rs766623471 Chr.21: 43068639-43068639 on Build GRCh38
rs71320601 Chr.21: 43068369-43068369 on Build GRCh38
rs1051445051 Chr.21: 43068445-43068445 on Build GRCh38
rs1010885608 Chr.21: 43068314-43068314 on Build GRCh38
rs751465959 Chr.21: 43068462-43068462 on Build GRCh38
rs974047614 Chr.21: 43068425-43068425 on Build GRCh38
rs71322504 Chr.21: 43068579-43068579 on Build GRCh38
rs750553930 Chr.21: 43068628-43068628 on Build GRCh38
rs34040148 Chr.21: 43068521-43068521 on Build GRCh38
rs747133616 Chr.21: 43068500-43068500 on Build GRCh38
rs763892068 Chr.21: 43068607-43068607 on Build GRCh38
rs779297627 Chr.21: 43068543-43068543 on Build GRCh38
rs552179536 Chr.21: 43068600-43068600 on Build GRCh38
rs748617584 Chr.21: 43068558-43068558 on Build GRCh38
rs769608918 Chr.21: 43068587-43068587 on Build GRCh38
rs781268037 Chr.21: 43068475-43068475 on Build GRCh38
rs762862715 Chr.21: 43068604-43068604 on Build GRCh38
rs369644531 Chr.21: 43068524-43068524 on Build GRCh38
rs71320599 Chr.21: 43068292-43068292 on Build GRCh38
rs547746260 Chr.21: 43068389-43068389 on Build GRCh38
rs761878715 Chr.21: 43068613-43068613 on Build GRCh38
rs73372393 Chr.21: 43068379-43068379 on Build GRCh38
rs891475692 Chr.21: 43068428-43068437 on Build GRCh38
rs79732476 Chr.21: 43068646-43068646 on Build GRCh38
rs772522506 Chr.21: 43068643-43068644 on Build GRCh38
rs772450760 Chr.21: 43068559-43068559 on Build GRCh38
rs529753439 Chr.21: 43068385-43068385 on Build GRCh38
rs776259258 Chr.21: 43068569-43068569 on Build GRCh38
rs786204609 Chr.21: 43068519-43068519 on Build GRCh38
rs1024587551 Chr.21: 43068337-43068337 on Build GRCh38
rs71322503 Chr.21: 43068553-43068553 on Build GRCh38
rs79931621 Chr.21: 43068647-43068647 on Build GRCh38
rs962803142 Chr.21: 43068398-43068398 on Build GRCh38
rs183972299 Chr.21: 43068631-43068631 on Build GRCh38
rs912519922 Chr.21: 43068458-43068458 on Build GRCh38
rs234715 Chr.21: 43068285-43068285 on Build GRCh38
rs786204608 Chr.21: 43068592-43068592 on Build GRCh38
rs755819874 Chr.21: 43068658-43068659 on Build GRCh38
rs1057516256 Chr.21: 43068508-43068508 on Build GRCh38
rs748445081 Chr.21: 43068667-43068667 on Build GRCh38
rs187430972 Chr.21: 43068332-43068332 on Build GRCh38
rs971963398 Chr.21: 43068365-43068365 on Build GRCh38
rs71320600 Chr.21: 43068319-43068319 on Build GRCh38
rs562656023 Chr.21: 43068618-43068618 on Build GRCh38
rs757297519 Chr.21: 43068473-43068473 on Build GRCh38
rs397805342 Chr.21: 43068659-43068660 on Build GRCh38
rs376506103 Chr.21: 43068277-43068277 on Build GRCh38
rs748416205 Chr.21: 43068534-43068538 on Build GRCh38
rs111806133 Chr.21: 43068251-43068251 on Build GRCh38
rs863223435 Chr.21: 43068572-43068572 on Build GRCh38
rs761447873 Chr.21: 43068657-43068658 on Build GRCh38
rs749697783 Chr.21: 43068528-43068528 on Build GRCh38
rs767344860 Chr.21: 43068620-43068620 on Build GRCh38
rs750466053 Chr.21: 43068487-43068487 on Build GRCh38

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