Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 61525781-61526272 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
6502628 c.1771G>A p.E591K Chr.8: 61526106-61526106 on Build GRCh38
3779300 c.1857G>A p.L619L Chr.8: 61526020-61526020 on Build GRCh38
5990717 c.1872C>G p.D624E Chr.8: 61526005-61526005 on Build GRCh38
3786021 c.1886C>T p.T629M Chr.8: 61525991-61525991 on Build GRCh38
4473210 c.1836C>T p.F612F Chr.8: 61526041-61526041 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs762481351 Chr.8: 61526036-61526036 on Build GRCh38
rs751217268 Chr.8: 61526052-61526052 on Build GRCh38
rs770463701 Chr.8: 61525930-61525930 on Build GRCh38
rs375445620 Chr.8: 61526084-61526084 on Build GRCh38
rs969385896 Chr.8: 61525978-61525978 on Build GRCh38
rs953058075 Chr.8: 61526185-61526185 on Build GRCh38
rs1039784275 Chr.8: 61526165-61526165 on Build GRCh38
rs199794266 Chr.8: 61525951-61525951 on Build GRCh38
rs774646513 Chr.8: 61526138-61526138 on Build GRCh38
rs370641928 Chr.8: 61525972-61525972 on Build GRCh38
rs944498109 Chr.8: 61526220-61526220 on Build GRCh38
rs539094293 Chr.8: 61526180-61526181 on Build GRCh38
rs1014485247 Chr.8: 61526101-61526101 on Build GRCh38
rs1010517988 Chr.8: 61525974-61525974 on Build GRCh38
rs750181448 Chr.8: 61526216-61526216 on Build GRCh38
rs1034444526 Chr.8: 61526030-61526030 on Build GRCh38
rs747259409 Chr.8: 61526149-61526149 on Build GRCh38
rs746567922 Chr.8: 61525904-61525904 on Build GRCh38
rs985815146 Chr.8: 61526195-61526195 on Build GRCh38
rs1014789055 Chr.8: 61526116-61526116 on Build GRCh38
rs772233539 Chr.8: 61525976-61525976 on Build GRCh38
rs768615771 Chr.8: 61526093-61526093 on Build GRCh38
rs78239105 Chr.8: 61526181-61526181 on Build GRCh38
rs977313880 Chr.8: 61526221-61526221 on Build GRCh38
rs200474335 Chr.8: 61526015-61526015 on Build GRCh38
rs754767718 Chr.8: 61525936-61525936 on Build GRCh38
rs371017481 Chr.8: 61525944-61525944 on Build GRCh38
rs74421266 Chr.8: 61526249-61526249 on Build GRCh38
rs145641679 Chr.8: 61526068-61526068 on Build GRCh38
rs995265137 Chr.8: 61525850-61525850 on Build GRCh38
rs569374055 Chr.8: 61525916-61525916 on Build GRCh38
rs765843301 Chr.8: 61526042-61526042 on Build GRCh38
rs747298771 Chr.8: 61526074-61526074 on Build GRCh38
rs767193627 Chr.8: 61526196-61526196 on Build GRCh38
rs879255574 Chr.8: 61526021-61526025 on Build GRCh38
rs748095039 Chr.8: 61525947-61525947 on Build GRCh38
rs752542964 Chr.8: 61526075-61526075 on Build GRCh38
rs559115771 Chr.8: 61525865-61525865 on Build GRCh38
rs973029486 Chr.8: 61525811-61525811 on Build GRCh38
rs4738904 Chr.8: 61525971-61525971 on Build GRCh38
rs199833011 Chr.8: 61525991-61525991 on Build GRCh38
rs758594010 Chr.8: 61526109-61526109 on Build GRCh38
rs529634810 Chr.8: 61525866-61525866 on Build GRCh38
rs374999948 Chr.8: 61525990-61525990 on Build GRCh38
rs749202132 Chr.8: 61526095-61526095 on Build GRCh38
rs777880398 Chr.8: 61526086-61526086 on Build GRCh38
rs374793419 Chr.8: 61526152-61526152 on Build GRCh38
rs535043002 Chr.8: 61526073-61526073 on Build GRCh38
rs113474909 Chr.8: 61526170-61526170 on Build GRCh38
rs151227328 Chr.8: 61525914-61525914 on Build GRCh38
rs898408639 Chr.8: 61525809-61525809 on Build GRCh38
rs775890030 Chr.8: 61525985-61525985 on Build GRCh38
rs879421706 Chr.8: 61526231-61526232 on Build GRCh38
rs911355711 Chr.8: 61525946-61525946 on Build GRCh38
rs768924739 Chr.8: 61526164-61526164 on Build GRCh38
rs924813573 Chr.8: 61526005-61526005 on Build GRCh38
rs527807260 Chr.8: 61526009-61526009 on Build GRCh38

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