Product Details

Primer Sequences
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Primer Chromosome Location
Chr.5: 74696519-74697048 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
HEXB
Entrez Gene ID
3074
Gene Name
hexosaminidase subunit beta
Gene Aliases
ENC-1AS, HEL-248, HEL-S-111
UniGene
Hs.69293
Gene Chromosome Location
Chr.5: 74640023-74721288 on Build GRCh38
Transcripts
NM_000521.3 NM_001292004.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
223007 c.596G>A p.R199K Chr.5: 74697033-74697033 on Build GRCh38
3073187 c.541C>G p.Q181E Chr.5: 74696722-74696722 on Build GRCh38
1070014 c.568A>G p.N190D Chr.5: 74697005-74697005 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs1696979 Chr.5: 74696581-74696581 on Build GRCh38
rs371095731 Chr.5: 74696779-74696779 on Build GRCh38
rs372628547 Chr.5: 74696810-74696810 on Build GRCh38
rs375718189 Chr.5: 74696964-74696964 on Build GRCh38
rs903097610 Chr.5: 74696785-74696785 on Build GRCh38
rs759929547 Chr.5: 74696754-74696755 on Build GRCh38
rs768709994 Chr.5: 74696957-74696957 on Build GRCh38
rs759224470 Chr.5: 74697016-74697016 on Build GRCh38
rs932030765 Chr.5: 74696716-74696716 on Build GRCh38
rs764822689 Chr.5: 74696667-74696667 on Build GRCh38
rs776543086 Chr.5: 74697014-74697014 on Build GRCh38
rs1024197034 Chr.5: 74696633-74696633 on Build GRCh38
rs770372736 Chr.5: 74696973-74696973 on Build GRCh38
rs1019910536 Chr.5: 74696552-74696552 on Build GRCh38
rs545098145 Chr.5: 74696660-74696660 on Build GRCh38
rs1034374127 Chr.5: 74696917-74696917 on Build GRCh38
rs565905527 Chr.5: 74696871-74696871 on Build GRCh38
rs772132346 Chr.5: 74697006-74697006 on Build GRCh38
rs1035475160 Chr.5: 74696589-74696589 on Build GRCh38
rs991021889 Chr.5: 74696630-74696630 on Build GRCh38
rs958682179 Chr.5: 74696614-74696614 on Build GRCh38
rs752174303 Chr.5: 74696740-74696743 on Build GRCh38
rs746391674 Chr.5: 74696648-74696648 on Build GRCh38
rs765229504 Chr.5: 74697021-74697021 on Build GRCh38
rs369863020 Chr.5: 74696642-74696642 on Build GRCh38
rs182130053 Chr.5: 74696812-74696812 on Build GRCh38
rs547972337 Chr.5: 74696858-74696858 on Build GRCh38
rs756794576 Chr.5: 74696791-74696791 on Build GRCh38
rs1043917579 Chr.5: 74696859-74696859 on Build GRCh38
rs762123301 Chr.5: 74697002-74697002 on Build GRCh38
rs767974080 Chr.5: 74696774-74696775 on Build GRCh38
rs1665894 Chr.5: 74696784-74696784 on Build GRCh38
rs201972010 Chr.5: 74696664-74696664 on Build GRCh38
rs573447174 Chr.5: 74696733-74696733 on Build GRCh38
rs923395829 Chr.5: 74696712-74696712 on Build GRCh38
rs1023809920 Chr.5: 74696927-74696927 on Build GRCh38
rs764475186 Chr.5: 74696675-74696675 on Build GRCh38
rs749153327 Chr.5: 74696895-74696895 on Build GRCh38
rs374184197 Chr.5: 74696603-74696603 on Build GRCh38
rs1002117890 Chr.5: 74696913-74696913 on Build GRCh38
rs373105716 Chr.5: 74696688-74696688 on Build GRCh38
rs573801213 Chr.5: 74696546-74696546 on Build GRCh38
rs892186226 Chr.5: 74696820-74696820 on Build GRCh38
rs768868445 Chr.5: 74696983-74696983 on Build GRCh38
rs398123449 Chr.5: 74697024-74697024 on Build GRCh38
rs577818599 Chr.5: 74696656-74696656 on Build GRCh38
rs201362815 Chr.5: 74696780-74696780 on Build GRCh38
rs958817128 Chr.5: 74696599-74696599 on Build GRCh38
rs200962082 Chr.5: 74696720-74696720 on Build GRCh38
rs375560011 Chr.5: 74696934-74696934 on Build GRCh38
rs766197541 Chr.5: 74696706-74696706 on Build GRCh38
rs774503665 Chr.5: 74696998-74696998 on Build GRCh38
rs374665376 Chr.5: 74696978-74696978 on Build GRCh38
rs952283835 Chr.5: 74696651-74696651 on Build GRCh38
rs551446772 Chr.5: 74696939-74696939 on Build GRCh38
rs191028207 Chr.5: 74696755-74696755 on Build GRCh38
rs945232761 Chr.5: 74696842-74696842 on Build GRCh38
rs903730160 Chr.5: 74696554-74696554 on Build GRCh38
rs746196408 Chr.5: 74696970-74696970 on Build GRCh38
rs533264474 Chr.5: 74696933-74696933 on Build GRCh38
rs140838044 Chr.5: 74696574-74696574 on Build GRCh38
rs765141658 Chr.5: 74696758-74696758 on Build GRCh38
rs892920643 Chr.5: 74696744-74696744 on Build GRCh38
rs976468812 Chr.5: 74696705-74696705 on Build GRCh38
rs753024902 Chr.5: 74696791-74696792 on Build GRCh38
rs752247300 Chr.5: 74696769-74696769 on Build GRCh38
rs761880870 Chr.5: 74696695-74696695 on Build GRCh38
rs894240575 Chr.5: 74696875-74696875 on Build GRCh38

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