Product Details

Primer Sequences

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Primer Chromosome Location

Chr.21: 6460060-6460325 on Build GRCh38 View in UCSC browser

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_011529777.1 XM_011529781.1 XM_011529782.1 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_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_011529777.1 XM_011529781.1 XM_011529782.1 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_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_011529777.1 XM_011529781.1 XM_011529782.1 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_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

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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
4669551	c.257A>G	p.D86G	Chr.21: 43068568-43068568 on Build GRCh38
6620985	c.293A>C	p.K98T	Chr.21: 43068532-43068532 on Build GRCh38
3551231	c.263C>T	p.P88L	Chr.21: 43068562-43068562 on Build GRCh38
1317107	c.312G>T	p.E104D	Chr.21: 43068513-43068513 on Build GRCh38
145196	c.312G>T	p.E104D	Chr.21: 43068513-43068513 on Build GRCh38
5085438	c.298G>A	p.G100S	Chr.21: 43068527-43068527 on Build GRCh38
6620984	c.293A>C	p.K98T	Chr.21: 43068532-43068532 on Build GRCh38
3551230	c.263C>T	p.P88L	Chr.21: 43068562-43068562 on Build GRCh38
1031137	c.252C>T	p.I84I	Chr.21: 43068573-43068573 on Build GRCh38
4403412	c.243G>A	p.L81L	Chr.21: 43068582-43068582 on Build GRCh38
5057616	c.253G>A	p.G85R	Chr.21: 43068572-43068572 on Build GRCh38
1031135	c.297C>T	p.F99F	Chr.21: 43068528-43068528 on Build GRCh38
4101848	c.316+2T>C	p.?	Chr.21: 43068507-43068507 on Build GRCh38
7318402	c.310G>A	p.E104K	Chr.21: 43068515-43068515 on Build GRCh38
1031136	c.252C>T	p.I84I	Chr.21: 43068573-43068573 on Build GRCh38
5085437	c.298G>A	p.G100S	Chr.21: 43068527-43068527 on Build GRCh38
1031134	c.297C>T	p.F99F	Chr.21: 43068528-43068528 on Build GRCh38
4403411	c.243G>A	p.L81L	Chr.21: 43068582-43068582 on Build GRCh38
4917366	c.310G>T	p.E104*	Chr.21: 43068515-43068515 on Build GRCh38
5057615	c.253G>A	p.G85R	Chr.21: 43068572-43068572 on Build GRCh38
5949152	c.212C>A	p.A71E	Chr.21: 43068613-43068613 on Build GRCh38
4101847	c.316+2T>C	p.?	Chr.21: 43068507-43068507 on Build GRCh38
4818841	c.286G>T	p.G96W	Chr.21: 43068539-43068539 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs192232907	Chr.21: 43068610-43068610 on Build GRCh38
rs761878715	Chr.21: 43068613-43068613 on Build GRCh38
rs891475692	Chr.21: 43068428-43068437 on Build GRCh38
rs764157942	Chr.21: 43068459-43068459 on Build GRCh38
rs772450760	Chr.21: 43068559-43068559 on Build GRCh38
rs786204609	Chr.21: 43068519-43068519 on Build GRCh38
rs776259258	Chr.21: 43068569-43068569 on Build GRCh38
rs529977190	Chr.21: 43068435-43068435 on Build GRCh38
rs71322503	Chr.21: 43068553-43068553 on Build GRCh38
rs786204757	Chr.21: 43068523-43068523 on Build GRCh38
rs912519922	Chr.21: 43068458-43068458 on Build GRCh38
rs786204608	Chr.21: 43068592-43068592 on Build GRCh38
rs112029370	Chr.21: 43068529-43068529 on Build GRCh38
rs1057516256	Chr.21: 43068508-43068508 on Build GRCh38
rs1051445051	Chr.21: 43068445-43068445 on Build GRCh38
rs974047614	Chr.21: 43068425-43068425 on Build GRCh38
rs751465959	Chr.21: 43068462-43068462 on Build GRCh38
rs71322504	Chr.21: 43068579-43068579 on Build GRCh38
rs562656023	Chr.21: 43068618-43068618 on Build GRCh38
rs757297519	Chr.21: 43068473-43068473 on Build GRCh38
rs747133616	Chr.21: 43068500-43068500 on Build GRCh38
rs34040148	Chr.21: 43068521-43068521 on Build GRCh38
rs748416205	Chr.21: 43068534-43068538 on Build GRCh38
rs763892068	Chr.21: 43068607-43068607 on Build GRCh38
rs779297627	Chr.21: 43068543-43068543 on Build GRCh38
rs863223435	Chr.21: 43068572-43068572 on Build GRCh38
rs552179536	Chr.21: 43068600-43068600 on Build GRCh38
rs748617584	Chr.21: 43068558-43068558 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
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

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