Product Details

Primer Sequences
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Primer Chromosome Location
Chr.4: 185020079-185020320 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
HELT
Entrez Gene ID
391723
Gene Name
helt bHLH transcription factor
Gene Aliases
HCM1228, HESL, Mgn, bHLHb44
UniGene
Hs.531242
Gene Chromosome Location
Chr.4: 185018841-185021265 on Build GRCh38
Transcripts
NM_001300781.1 NM_001300782.1 XM_017008186.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1053736 c.490C>A p.L164I Chr.4: 185020278-185020278 on Build GRCh38
1053737 c.493C>A p.L165I Chr.4: 185020281-185020281 on Build GRCh38
420643 c.532G>C p.E178Q Chr.4: 185020320-185020320 on Build GRCh38
6679019 c.513C>A p.Y171* Chr.4: 185020301-185020301 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs757999982 Chr.4: 185020236-185020236 on Build GRCh38
rs367638716 Chr.4: 185020270-185020270 on Build GRCh38
rs550172563 Chr.4: 185020228-185020228 on Build GRCh38
rs1046191648 Chr.4: 185020174-185020174 on Build GRCh38
rs562248362 Chr.4: 185020147-185020147 on Build GRCh38
rs923324680 Chr.4: 185020098-185020098 on Build GRCh38
rs754318645 Chr.4: 185020229-185020229 on Build GRCh38
rs752744535 Chr.4: 185020234-185020234 on Build GRCh38
rs775744003 Chr.4: 185020288-185020288 on Build GRCh38
rs1029125750 Chr.4: 185020210-185020210 on Build GRCh38
rs1012384090 Chr.4: 185020169-185020169 on Build GRCh38
rs140544289 Chr.4: 185020285-185020285 on Build GRCh38
rs531455379 Chr.4: 185020106-185020106 on Build GRCh38
rs963852800 Chr.4: 185020275-185020275 on Build GRCh38
rs772210049 Chr.4: 185020286-185020286 on Build GRCh38
rs528561519 Chr.4: 185020223-185020223 on Build GRCh38
rs548330166 Chr.4: 185020112-185020112 on Build GRCh38
rs1005506590 Chr.4: 185020244-185020244 on Build GRCh38
rs571135478 Chr.4: 185020203-185020203 on Build GRCh38
rs923920294 Chr.4: 185020151-185020151 on Build GRCh38
rs779708719 Chr.4: 185020240-185020240 on Build GRCh38
rs781329634 Chr.4: 185020263-185020263 on Build GRCh38
rs939490912 Chr.4: 185020142-185020142 on Build GRCh38
rs754788288 Chr.4: 185020261-185020261 on Build GRCh38
rs553088517 Chr.4: 185020164-185020164 on Build GRCh38
rs764719013 Chr.4: 185020232-185020232 on Build GRCh38
rs569978233 Chr.4: 185020231-185020231 on Build GRCh38
rs933337395 Chr.4: 185020104-185020104 on Build GRCh38
rs901433 Chr.4: 185020161-185020161 on Build GRCh38
rs755957034 Chr.4: 185020238-185020245 on Build GRCh38
rs994628367 Chr.4: 185020187-185020187 on Build GRCh38
rs767743044 Chr.4: 185020153-185020153 on Build GRCh38
rs976526462 Chr.4: 185020282-185020282 on Build GRCh38
rs369517761 Chr.4: 185020234-185020234 on Build GRCh38
rs376244637 Chr.4: 185020252-185020252 on Build GRCh38

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