Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 43056798-43057059 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
1682018 c.1525G>A p.A509T Chr.21: 43056830-43056830 on Build GRCh38
1199730 c.1520A>G p.H507R Chr.21: 43056835-43056835 on Build GRCh38
5428881 c.1521C>A p.H507Q Chr.21: 43056834-43056834 on Build GRCh38
7318399 c.1476C>T p.L492L Chr.21: 43056879-43056879 on Build GRCh38
5392985 c.1528C>T p.L510L Chr.21: 43056827-43056827 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs377634632 Chr.21: 43056928-43056928 on Build GRCh38
rs794727162 Chr.21: 43056828-43056828 on Build GRCh38
rs1020262429 Chr.21: 43057039-43057040 on Build GRCh38
rs1011695140 Chr.21: 43057038-43057038 on Build GRCh38
rs1011972158 Chr.21: 43056922-43056922 on Build GRCh38
rs1046707991 Chr.21: 43056986-43056986 on Build GRCh38
rs1057516895 Chr.21: 43056888-43056888 on Build GRCh38
rs542791046 Chr.21: 43057015-43057015 on Build GRCh38
rs958799632 Chr.21: 43056974-43056974 on Build GRCh38
rs771250766 Chr.21: 43056893-43056893 on Build GRCh38
rs767337504 Chr.21: 43056933-43056933 on Build GRCh38
rs73220906 Chr.21: 43057025-43057025 on Build GRCh38
rs192922211 Chr.21: 43057037-43057037 on Build GRCh38
rs893207263 Chr.21: 43057029-43057029 on Build GRCh38
rs996249907 Chr.21: 43056877-43056877 on Build GRCh38
rs200613751 Chr.21: 43056840-43056840 on Build GRCh38
rs77459968 Chr.21: 43057019-43057019 on Build GRCh38
rs761405958 Chr.21: 43056931-43056931 on Build GRCh38
rs1005584 Chr.21: 43056985-43056985 on Build GRCh38
rs755106884 Chr.21: 43056856-43056856 on Build GRCh38
rs575568161 Chr.21: 43057010-43057010 on Build GRCh38
rs747419767 Chr.21: 43056883-43056883 on Build GRCh38
rs991367135 Chr.21: 43056983-43056983 on Build GRCh38
rs540776521 Chr.21: 43057032-43057032 on Build GRCh38
rs778800147 Chr.21: 43056861-43056861 on Build GRCh38
rs772075004 Chr.21: 43057033-43057033 on Build GRCh38
rs773670592 Chr.21: 43056929-43056929 on Build GRCh38
rs149170219 Chr.21: 43056843-43056843 on Build GRCh38
rs777230905 Chr.21: 43056901-43056901 on Build GRCh38
rs981364297 Chr.21: 43056947-43056947 on Build GRCh38
rs567725372 Chr.21: 43056920-43056920 on Build GRCh38
rs1005585 Chr.21: 43056923-43056923 on Build GRCh38
rs539667482 Chr.21: 43057007-43057007 on Build GRCh38
rs553292590 Chr.21: 43056959-43056959 on Build GRCh38
rs572553396 Chr.21: 43057006-43057006 on Build GRCh38
rs369903148 Chr.21: 43056870-43056870 on Build GRCh38
rs772344567 Chr.21: 43056871-43056871 on Build GRCh38
rs545049120 Chr.21: 43057003-43057003 on Build GRCh38
rs377053472 Chr.21: 43056837-43056837 on Build GRCh38
rs143225442 Chr.21: 43056876-43056876 on Build GRCh38
rs748610628 Chr.21: 43056831-43056831 on Build GRCh38
rs1050638340 Chr.21: 43057028-43057028 on Build GRCh38
rs794727161 Chr.21: 43056829-43056829 on Build GRCh38

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