Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 6454410-6454671 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
5041428 c.951G>C p.R317S Chr.21: 43062956-43062956 on Build GRCh38
5041429 c.951G>C p.R317S Chr.21: 43062956-43062956 on Build GRCh38
6094546 c.924C>T p.Y308Y Chr.21: 43062983-43062983 on Build GRCh38
6094547 c.924C>T p.Y308Y Chr.21: 43062983-43062983 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs769393498 Chr.21: 43062911-43062911 on Build GRCh38
rs757859012 Chr.21: 43062944-43062944 on Build GRCh38
rs575175452 Chr.21: 43062938-43062938 on Build GRCh38
rs548858722 Chr.21: 43062824-43062824 on Build GRCh38
rs554429567 Chr.21: 43062946-43062946 on Build GRCh38
rs770671402 Chr.21: 43062949-43062949 on Build GRCh38
rs762823766 Chr.21: 43062967-43062967 on Build GRCh38
rs780735160 Chr.21: 43062936-43062936 on Build GRCh38
rs775432669 Chr.21: 43062958-43062958 on Build GRCh38
rs368353530 Chr.21: 43062921-43062921 on Build GRCh38
rs1057517373 Chr.21: 43062952-43062952 on Build GRCh38
rs370565050 Chr.21: 43062764-43062764 on Build GRCh38
rs889330988 Chr.21: 43062841-43062843 on Build GRCh38
rs571335882 Chr.21: 43062918-43062918 on Build GRCh38
rs769541394 Chr.21: 43062954-43062954 on Build GRCh38
rs76292057 Chr.21: 43062945-43062945 on Build GRCh38
rs534373861 Chr.21: 43062885-43062885 on Build GRCh38
rs776122644 Chr.21: 43062953-43062953 on Build GRCh38
rs751747157 Chr.21: 43062917-43062917 on Build GRCh38
rs761787042 Chr.21: 43062972-43062972 on Build GRCh38
rs1049457633 Chr.21: 43062831-43062831 on Build GRCh38
rs939759524 Chr.21: 43062775-43062775 on Build GRCh38
rs372327925 Chr.21: 43062933-43062933 on Build GRCh38
rs1037175730 Chr.21: 43062818-43062818 on Build GRCh38
rs57282132 Chr.21: 43062906-43062906 on Build GRCh38
rs1007832394 Chr.21: 43062860-43062860 on Build GRCh38
rs59521601 Chr.21: 43062920-43062920 on Build GRCh38
rs997850273 Chr.21: 43062830-43062830 on Build GRCh38
rs1789953 Chr.21: 43062826-43062826 on Build GRCh38
rs1048177943 Chr.21: 43062766-43062766 on Build GRCh38
rs778233554 Chr.21: 43062854-43062855 on Build GRCh38
rs2228298 Chr.21: 43062968-43062968 on Build GRCh38
rs774557878 Chr.21: 43062969-43062969 on Build GRCh38
rs77924134 Chr.21: 43062769-43062769 on Build GRCh38

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