Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 6450907-6451178 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
7195534 c.1220C>G p.P407R Chr.21: 43059229-43059229 on Build GRCh38
6620990 c.1209G>A p.T403T Chr.21: 43059240-43059240 on Build GRCh38
7150835 c.1194G>A p.K398K Chr.21: 43059255-43059255 on Build GRCh38
6999553 c.1146-4G>A p.? Chr.21: 43059307-43059307 on Build GRCh38
5934063 c.1195G>A p.E399K Chr.21: 43059254-43059254 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs199550738 Chr.21: 43059315-43059315 on Build GRCh38
rs376749931 Chr.21: 43059310-43059310 on Build GRCh38
rs1002474374 Chr.21: 43059473-43059474 on Build GRCh38
rs764326773 Chr.21: 43059351-43059351 on Build GRCh38
rs764715391 Chr.21: 43059261-43059261 on Build GRCh38
rs760360358 Chr.21: 43059391-43059391 on Build GRCh38
rs748167919 Chr.21: 43059359-43059359 on Build GRCh38
rs754691256 Chr.21: 43059294-43059294 on Build GRCh38
rs147006826 Chr.21: 43059371-43059371 on Build GRCh38
rs149280976 Chr.21: 43059288-43059288 on Build GRCh38
rs746889909 Chr.21: 43059325-43059325 on Build GRCh38
rs2895956 Chr.21: 43059392-43059392 on Build GRCh38
rs770115212 Chr.21: 43059336-43059336 on Build GRCh38
rs368389498 Chr.21: 43059353-43059353 on Build GRCh38
rs1031048365 Chr.21: 43059377-43059377 on Build GRCh38
rs374483311 Chr.21: 43059345-43059345 on Build GRCh38
rs941685349 Chr.21: 43059308-43059308 on Build GRCh38
rs375308499 Chr.21: 43059333-43059333 on Build GRCh38
rs942757019 Chr.21: 43059343-43059343 on Build GRCh38
rs57832284 Chr.21: 43059450-43059450 on Build GRCh38
rs546177394 Chr.21: 43059446-43059446 on Build GRCh38
rs121964967 Chr.21: 43059299-43059299 on Build GRCh38
rs375513996 Chr.21: 43059287-43059287 on Build GRCh38
rs751980433 Chr.21: 43059275-43059275 on Build GRCh38
rs138222805 Chr.21: 43059413-43059413 on Build GRCh38
rs778414187 Chr.21: 43059307-43059307 on Build GRCh38
rs765880518 Chr.21: 43059354-43059354 on Build GRCh38
rs775556604 Chr.21: 43059337-43059337 on Build GRCh38
rs553705903 Chr.21: 43059462-43059462 on Build GRCh38
rs777778265 Chr.21: 43059389-43059399 on Build GRCh38
rs776782342 Chr.21: 43059332-43059332 on Build GRCh38
rs775226440 Chr.21: 43059386-43059386 on Build GRCh38
rs771145972 Chr.21: 43059329-43059329 on Build GRCh38
rs770393999 Chr.21: 43059329-43059349 on Build GRCh38
rs776163839 Chr.21: 43059348-43059349 on Build GRCh38
rs777794058 Chr.21: 43059324-43059324 on Build GRCh38
rs903968247 Chr.21: 43059357-43059357 on Build GRCh38

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