Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 119091084-119091590 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
HMBS
Entrez Gene ID
3145
Gene Name
hydroxymethylbilane synthase
Gene Aliases
PBG-D, PBGD, PORC, UPS
UniGene
Hs.82609
Gene Chromosome Location
Chr.11: 119084871-119093549 on Build GRCh38
Transcripts
NM_000190.3 NM_001024382.1 NM_001258208.1 NM_001258209.1 XM_005271531.1 XM_005271532.1 XM_005271533.3 XM_011542796.1 XM_017017629.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4799355 c.523C>T p.R175W Chr.11: 119091437-119091437 on Build GRCh38
6269810 c.537G>T p.E179D Chr.11: 119091451-119091451 on Build GRCh38
4792042 c.506A>T p.N169I Chr.11: 119091420-119091420 on Build GRCh38
3981325 c.539A>T p.Q180L Chr.11: 119091453-119091453 on Build GRCh38
6238670 c.583C>A p.R195S Chr.11: 119091497-119091497 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs937662305 Chr.11: 119091145-119091145 on Build GRCh38
rs377558268 Chr.11: 119091382-119091382 on Build GRCh38
rs773377085 Chr.11: 119091439-119091439 on Build GRCh38
rs951984059 Chr.11: 119091174-119091174 on Build GRCh38
rs373950399 Chr.11: 119091365-119091365 on Build GRCh38
rs1131488 Chr.11: 119091520-119091520 on Build GRCh38
rs369192740 Chr.11: 119091362-119091362 on Build GRCh38
rs1036825752 Chr.11: 119091218-119091218 on Build GRCh38
rs747385829 Chr.11: 119091303-119091303 on Build GRCh38
rs1050615859 Chr.11: 119091250-119091250 on Build GRCh38
rs909516079 Chr.11: 119091475-119091475 on Build GRCh38
rs889940195 Chr.11: 119091298-119091298 on Build GRCh38
rs192427103 Chr.11: 119091201-119091201 on Build GRCh38
rs150524167 Chr.11: 119091300-119091300 on Build GRCh38
rs569489222 Chr.11: 119091405-119091405 on Build GRCh38
rs118204101 Chr.11: 119091413-119091413 on Build GRCh38
rs914335144 Chr.11: 119091518-119091518 on Build GRCh38
rs1007551607 Chr.11: 119091361-119091361 on Build GRCh38
rs545577347 Chr.11: 119091483-119091483 on Build GRCh38
rs1048329521 Chr.11: 119091154-119091154 on Build GRCh38
rs753150176 Chr.11: 119091386-119091386 on Build GRCh38
rs960860496 Chr.11: 119091131-119091131 on Build GRCh38
rs545662711 Chr.11: 119091222-119091222 on Build GRCh38
rs762585 Chr.11: 119091443-119091443 on Build GRCh38
rs575222284 Chr.11: 119091431-119091431 on Build GRCh38
rs118204095 Chr.11: 119091414-119091414 on Build GRCh38
rs1043988414 Chr.11: 119091333-119091333 on Build GRCh38
rs118204100 Chr.11: 119091507-119091507 on Build GRCh38
rs751746798 Chr.11: 119091176-119091176 on Build GRCh38
rs916382428 Chr.11: 119091138-119091138 on Build GRCh38
rs578109308 Chr.11: 119091190-119091190 on Build GRCh38
rs557628210 Chr.11: 119091517-119091517 on Build GRCh38
rs1051884191 Chr.11: 119091534-119091534 on Build GRCh38
rs374312762 Chr.11: 119091434-119091434 on Build GRCh38
rs553513916 Chr.11: 119091178-119091178 on Build GRCh38
rs371177992 Chr.11: 119091542-119091542 on Build GRCh38
rs779635498 Chr.11: 119091540-119091540 on Build GRCh38
rs926328998 Chr.11: 119091114-119091114 on Build GRCh38
rs907818589 Chr.11: 119091200-119091200 on Build GRCh38
rs118204096 Chr.11: 119091432-119091432 on Build GRCh38
rs139526827 Chr.11: 119091319-119091319 on Build GRCh38
rs758033416 Chr.11: 119091537-119091537 on Build GRCh38
rs118204109 Chr.11: 119091515-119091515 on Build GRCh38
rs888358291 Chr.11: 119091167-119091167 on Build GRCh38
rs775202574 Chr.11: 119091557-119091557 on Build GRCh38
rs1046543423 Chr.11: 119091111-119091111 on Build GRCh38
rs547041132 Chr.11: 119091369-119091369 on Build GRCh38
rs622846 Chr.11: 119091207-119091207 on Build GRCh38
rs563861797 Chr.11: 119091232-119091232 on Build GRCh38
rs984698758 Chr.11: 119091183-119091183 on Build GRCh38
rs769085378 Chr.11: 119091308-119091308 on Build GRCh38
rs997622048 Chr.11: 119091283-119091283 on Build GRCh38
rs543285352 Chr.11: 119091296-119091296 on Build GRCh38
rs770586005 Chr.11: 119091486-119091486 on Build GRCh38
rs984615748 Chr.11: 119091400-119091400 on Build GRCh38
rs757133107 Chr.11: 119091373-119091373 on Build GRCh38
rs940347714 Chr.11: 119091210-119091210 on Build GRCh38
rs377469849 Chr.11: 119091438-119091438 on Build GRCh38
rs756417575 Chr.11: 119091437-119091437 on Build GRCh38
rs118204108 Chr.11: 119091444-119091444 on Build GRCh38
rs931718055 Chr.11: 119091240-119091240 on Build GRCh38
rs535020485 Chr.11: 119091560-119091560 on Build GRCh38
rs183503642 Chr.11: 119091385-119091385 on Build GRCh38
rs745705652 Chr.11: 119091530-119091530 on Build GRCh38
rs766554554 Chr.11: 119091448-119091448 on Build GRCh38
rs778639854 Chr.11: 119091374-119091374 on Build GRCh38
rs1012303824 Chr.11: 119091366-119091366 on Build GRCh38
rs536814318 Chr.11: 119091446-119091446 on Build GRCh38
rs201347005 Chr.11: 119091377-119091377 on Build GRCh38
rs902802648 Chr.11: 119091346-119091346 on Build GRCh38
rs778872834 Chr.11: 119091523-119091523 on Build GRCh38
rs951893421 Chr.11: 119091391-119091391 on Build GRCh38
rs773912537 Chr.11: 119091321-119091321 on Build GRCh38
rs34413634 Chr.11: 119091497-119091497 on Build GRCh38
rs991313745 Chr.11: 119091137-119091137 on Build GRCh38
rs369305479 Chr.11: 119091566-119091566 on Build GRCh38
rs531145035 Chr.11: 119091291-119091291 on Build GRCh38
rs896462435 Chr.11: 119091568-119091568 on Build GRCh38
rs1051074 Chr.11: 119091478-119091478 on Build GRCh38

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