Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 6445124-6445617 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
7156739 c.1656C>G p.D552E Chr.21: 43053922-43053922 on Build GRCh38
4101837 c.1626C>T p.F542F Chr.21: 43053910-43053910 on Build GRCh38
2820051 c.1684C>T p.R562W Chr.21: 43053894-43053894 on Build GRCh38
4771826 c.1633G>A p.A545T Chr.21: 43053903-43053903 on Build GRCh38
6882902 c.1689C>G p.D563E Chr.21: 43053889-43053889 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs192889818 Chr.21: 43053582-43053582 on Build GRCh38
rs1035066157 Chr.21: 43053682-43053682 on Build GRCh38
rs536375183 Chr.21: 43053546-43053546 on Build GRCh38
rs4987122 Chr.21: 43053584-43053584 on Build GRCh38
rs754031824 Chr.21: 43053902-43053902 on Build GRCh38
rs766444814 Chr.21: 43053894-43053894 on Build GRCh38
rs9978104 Chr.21: 43053870-43053870 on Build GRCh38
rs761688188 Chr.21: 43053844-43053844 on Build GRCh38
rs1028217019 Chr.21: 43053614-43053614 on Build GRCh38
rs888512644 Chr.21: 43053555-43053555 on Build GRCh38
rs889590485 Chr.21: 43053624-43053624 on Build GRCh38
rs998021241 Chr.21: 43053594-43053594 on Build GRCh38
rs143945898 Chr.21: 43053892-43053892 on Build GRCh38
rs938925773 Chr.21: 43053504-43053504 on Build GRCh38
rs780190588 Chr.21: 43053850-43053850 on Build GRCh38
rs960362961 Chr.21: 43053691-43053691 on Build GRCh38
rs753183931 Chr.21: 43053909-43053909 on Build GRCh38
rs367548583 Chr.21: 43053493-43053493 on Build GRCh38
rs977903456 Chr.21: 43053678-43053679 on Build GRCh38
rs572753401 Chr.21: 43053805-43053805 on Build GRCh38
rs575385885 Chr.21: 43053798-43053798 on Build GRCh38
rs550053103 Chr.21: 43053748-43053748 on Build GRCh38
rs1051316 Chr.21: 43053858-43053858 on Build GRCh38
rs141447394 Chr.21: 43053800-43053800 on Build GRCh38
rs940141053 Chr.21: 43053573-43053573 on Build GRCh38
rs1010819905 Chr.21: 43053801-43053801 on Build GRCh38
rs978142879 Chr.21: 43053499-43053499 on Build GRCh38
rs758818777 Chr.21: 43053910-43053910 on Build GRCh38
rs948884406 Chr.21: 43053550-43053550 on Build GRCh38
rs984268310 Chr.21: 43053750-43053750 on Build GRCh38
rs185332855 Chr.21: 43053697-43053697 on Build GRCh38
rs927691463 Chr.21: 43053501-43053501 on Build GRCh38
rs1048480409 Chr.21: 43053554-43053555 on Build GRCh38
rs1051319 Chr.21: 43053757-43053757 on Build GRCh38
rs139651937 Chr.21: 43053903-43053903 on Build GRCh38
rs748079701 Chr.21: 43053741-43053741 on Build GRCh38
rs886057097 Chr.21: 43053823-43053825 on Build GRCh38
rs1022016517 Chr.21: 43053495-43053495 on Build GRCh38
rs375873791 Chr.21: 43053485-43053485 on Build GRCh38
rs532204095 Chr.21: 43053494-43053494 on Build GRCh38
rs368510850 Chr.21: 43053863-43053863 on Build GRCh38
rs951271101 Chr.21: 43053595-43053595 on Build GRCh38
rs781319446 Chr.21: 43053626-43053626 on Build GRCh38
rs187340100 Chr.21: 43053536-43053536 on Build GRCh38
rs566810122 Chr.21: 43053904-43053904 on Build GRCh38
rs1022152796 Chr.21: 43053648-43053648 on Build GRCh38
rs779373902 Chr.21: 43053857-43053857 on Build GRCh38
rs190207400 Chr.21: 43053724-43053724 on Build GRCh38
rs12613 Chr.21: 43053581-43053581 on Build GRCh38
rs767500762 Chr.21: 43053882-43053882 on Build GRCh38
rs374464201 Chr.21: 43053846-43053846 on Build GRCh38
rs544806265 Chr.21: 43053740-43053740 on Build GRCh38
rs372286324 Chr.21: 43053496-43053496 on Build GRCh38
rs375308003 Chr.21: 43053823-43053823 on Build GRCh38
rs761743208 Chr.21: 43053881-43053881 on Build GRCh38
rs115406358 Chr.21: 43053799-43053799 on Build GRCh38
rs940091170 Chr.21: 43053765-43053765 on Build GRCh38
rs750535069 Chr.21: 43053847-43053847 on Build GRCh38
rs966860104 Chr.21: 43053677-43053677 on Build GRCh38
rs71872941 Chr.21: 43053773-43053777 on Build GRCh38
rs745424720 Chr.21: 43053869-43053869 on Build GRCh38
rs868122346 Chr.21: 43053716-43053716 on Build GRCh38
rs200259659 Chr.21: 43053862-43053862 on Build GRCh38
rs73372352 Chr.21: 43053497-43053497 on Build GRCh38
rs55646248 Chr.21: 43053853-43053853 on Build GRCh38
rs1043944056 Chr.21: 43053816-43053816 on Build GRCh38
rs1037123371 Chr.21: 43053769-43053769 on Build GRCh38
rs571374721 Chr.21: 43053471-43053471 on Build GRCh38
rs769736888 Chr.21: 43053746-43053746 on Build GRCh38
rs768461578 Chr.21: 43053875-43053875 on Build GRCh38
rs916041440 Chr.21: 43053537-43053537 on Build GRCh38
rs367597108 Chr.21: 43053852-43053852 on Build GRCh38
rs762624262 Chr.21: 43053874-43053874 on Build GRCh38
rs774073631 Chr.21: 43053876-43053876 on Build GRCh38
rs150828989 Chr.21: 43053893-43053893 on Build GRCh38
rs758257820 Chr.21: 43053749-43053750 on Build GRCh38
rs756205979 Chr.21: 43053849-43053849 on Build GRCh38

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