Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 61503112-61503664 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
ASPH
Entrez Gene ID
444
Gene Name
aspartate beta-hydroxylase
Gene Aliases
AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin
UniGene
Hs.332422
Gene Chromosome Location
Chr.8: 61500556-61714640 on Build GRCh38
Transcripts
NM_001164750.1 NM_004318.3 XM_005251235.2 XM_005251236.2 XM_005251238.2 XM_005251239.2 XM_005251240.1 XM_005251242.2 XM_005251243.2 XM_005251244.1 XM_005251246.2 XM_005251247.2 XM_005251248.1 XM_005251250.2 XM_017013419.1 XM_017013420.1 XM_017013421.1 XM_017013422.1 XM_017013423.1 XM_017013424.1 XM_017013425.1 XM_017013426.1 XM_017013427.1 XM_017013428.1 XM_017013429.1 XM_017013430.1 XM_017013431.1 XM_017013432.1 XM_017013433.1 XM_017013434.1 XM_017013435.1 XM_017013436.1 XM_017013437.1 XM_017013438.1 XM_017013439.1 XM_017013440.1 XM_017013441.1 XM_017013442.1 XM_017013443.1 XM_017013444.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4855501 c.2161G>A p.D721N Chr.8: 61503475-61503475 on Build GRCh38
2720223 c.2175C>T p.H725H Chr.8: 61503461-61503461 on Build GRCh38
6549356 c.2245C>A p.P749T Chr.8: 61503391-61503391 on Build GRCh38
4964147 c.2165C>A p.S722Y Chr.8: 61503471-61503471 on Build GRCh38
3942707 c.2170G>A p.E724K Chr.8: 61503466-61503466 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs776266998 Chr.8: 61503400-61503400 on Build GRCh38
rs777803283 Chr.8: 61503368-61503368 on Build GRCh38
rs754112474 Chr.8: 61503372-61503372 on Build GRCh38
rs1039716873 Chr.8: 61503251-61503251 on Build GRCh38
rs899676419 Chr.8: 61503151-61503151 on Build GRCh38
rs1041252951 Chr.8: 61503149-61503149 on Build GRCh38
rs73259383 Chr.8: 61503154-61503154 on Build GRCh38
rs768329556 Chr.8: 61503398-61503398 on Build GRCh38
rs957678746 Chr.8: 61503314-61503314 on Build GRCh38
rs780640026 Chr.8: 61503381-61503381 on Build GRCh38
rs901216214 Chr.8: 61503256-61503256 on Build GRCh38
rs761535939 Chr.8: 61503318-61503318 on Build GRCh38
rs771362470 Chr.8: 61503577-61503577 on Build GRCh38
rs759451621 Chr.8: 61503430-61503430 on Build GRCh38
rs542643273 Chr.8: 61503587-61503587 on Build GRCh38
rs747672605 Chr.8: 61503507-61503507 on Build GRCh38
rs747380252 Chr.8: 61503530-61503530 on Build GRCh38
rs980478644 Chr.8: 61503273-61503273 on Build GRCh38
rs565702848 Chr.8: 61503348-61503348 on Build GRCh38
rs895829584 Chr.8: 61503506-61503506 on Build GRCh38
rs147092046 Chr.8: 61503457-61503457 on Build GRCh38
rs758835671 Chr.8: 61503458-61503458 on Build GRCh38
rs879109191 Chr.8: 61503346-61503346 on Build GRCh38
rs770595847 Chr.8: 61503476-61503476 on Build GRCh38
rs192951706 Chr.8: 61503374-61503374 on Build GRCh38
rs556043425 Chr.8: 61503412-61503412 on Build GRCh38
rs930173553 Chr.8: 61503163-61503163 on Build GRCh38
rs769277402 Chr.8: 61503480-61503480 on Build GRCh38
rs138880716 Chr.8: 61503269-61503270 on Build GRCh38
rs149655833 Chr.8: 61503185-61503185 on Build GRCh38
rs547793272 Chr.8: 61503298-61503298 on Build GRCh38
rs888738621 Chr.8: 61503224-61503224 on Build GRCh38
rs145655091 Chr.8: 61503410-61503410 on Build GRCh38
rs552446861 Chr.8: 61503142-61503143 on Build GRCh38
rs375137816 Chr.8: 61503521-61503521 on Build GRCh38
rs569811757 Chr.8: 61503379-61503379 on Build GRCh38
rs533398607 Chr.8: 61503387-61503387 on Build GRCh38
rs910104377 Chr.8: 61503570-61503570 on Build GRCh38
rs762826838 Chr.8: 61503418-61503418 on Build GRCh38
rs765178021 Chr.8: 61503322-61503322 on Build GRCh38
rs896081989 Chr.8: 61503196-61503196 on Build GRCh38
rs10087488 Chr.8: 61503241-61503241 on Build GRCh38
rs1015786492 Chr.8: 61503192-61503192 on Build GRCh38
rs371485848 Chr.8: 61503432-61503432 on Build GRCh38
rs957750513 Chr.8: 61503611-61503611 on Build GRCh38
rs374385878 Chr.8: 61503433-61503433 on Build GRCh38
rs1004205447 Chr.8: 61503186-61503186 on Build GRCh38
rs568263471 Chr.8: 61503402-61503402 on Build GRCh38
rs943923813 Chr.8: 61503362-61503362 on Build GRCh38
rs766051230 Chr.8: 61503421-61503421 on Build GRCh38
rs772951162 Chr.8: 61503513-61503513 on Build GRCh38
rs1048464260 Chr.8: 61503169-61503169 on Build GRCh38
rs141861375 Chr.8: 61503378-61503378 on Build GRCh38
rs902998636 Chr.8: 61503338-61503338 on Build GRCh38
rs765610535 Chr.8: 61503452-61503453 on Build GRCh38
rs16918881 Chr.8: 61503614-61503614 on Build GRCh38
rs148842811 Chr.8: 61503349-61503349 on Build GRCh38
rs971525254 Chr.8: 61503401-61503401 on Build GRCh38
rs112982646 Chr.8: 61503461-61503461 on Build GRCh38
rs769377583 Chr.8: 61503509-61503509 on Build GRCh38
rs1021003749 Chr.8: 61503615-61503615 on Build GRCh38
rs544944229 Chr.8: 61503448-61503448 on Build GRCh38
rs867537692 Chr.8: 61503501-61503501 on Build GRCh38
rs913588621 Chr.8: 61503351-61503351 on Build GRCh38
rs532649507 Chr.8: 61503296-61503296 on Build GRCh38
rs901189647 Chr.8: 61503613-61503613 on Build GRCh38
rs906024366 Chr.8: 61503586-61503586 on Build GRCh38
rs747609767 Chr.8: 61503471-61503471 on Build GRCh38
rs531991836 Chr.8: 61503162-61503162 on Build GRCh38
rs781735387 Chr.8: 61503497-61503497 on Build GRCh38
rs751559728 Chr.8: 61503427-61503427 on Build GRCh38
rs570626763 Chr.8: 61503265-61503266 on Build GRCh38
rs750235785 Chr.8: 61503328-61503328 on Build GRCh38
rs1023526607 Chr.8: 61503226-61503226 on Build GRCh38
rs147729399 Chr.8: 61503447-61503447 on Build GRCh38
rs867671728 Chr.8: 61503470-61503470 on Build GRCh38
rs1048454252 Chr.8: 61503424-61503424 on Build GRCh38
rs1041799506 Chr.8: 61503616-61503616 on Build GRCh38
rs7005617 Chr.8: 61503515-61503515 on Build GRCh38
rs561008040 Chr.8: 61503607-61503607 on Build GRCh38
rs756700934 Chr.8: 61503261-61503261 on Build GRCh38
rs747441276 Chr.8: 61503389-61503389 on Build GRCh38
rs1014528736 Chr.8: 61503213-61503213 on Build GRCh38
rs758059271 Chr.8: 61503339-61503339 on Build GRCh38
rs367738169 Chr.8: 61503540-61503540 on Build GRCh38

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