Product Details

Primer Sequences
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Primer Chromosome Location
Chr.12: 48108023-48108284 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
PFKM
Entrez Gene ID
5213
Gene Name
phosphofructokinase, muscle
Gene Aliases
ATP-PFK, GSD7, PFK-1, PFK1, PFKA, PFKX, PPP1R122
UniGene
Hs.75160
Gene Chromosome Location
Chr.12: 48105278-48146404 on Build GRCh38
Transcripts
NM_001166686.1 XM_005268974.1 XM_005268975.1 XM_005268976.3 XM_005268977.1 XM_005268978.2 XM_005268979.1 XM_011538487.1 XM_011538488.2 XM_017019467.1 XM_017019468.1 XM_017019469.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5037593 c.166G>T p.D56Y Chr.12: 48108155-48108155 on Build GRCh38
5677658 c.179T>C p.V60A Chr.12: 48108168-48108168 on Build GRCh38
1606172 c.146A>T p.K49M Chr.12: 48108135-48108135 on Build GRCh38
939775 c.178G>A p.V60M Chr.12: 48108167-48108167 on Build GRCh38
6197611 c.182G>T p.G61V Chr.12: 48108171-48108171 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs368449892 Chr.12: 48108045-48108045 on Build GRCh38
rs760633722 Chr.12: 48108058-48108058 on Build GRCh38
rs751774594 Chr.12: 48108104-48108104 on Build GRCh38
rs750793188 Chr.12: 48108131-48108131 on Build GRCh38
rs111629833 Chr.12: 48108249-48108249 on Build GRCh38
rs767661403 Chr.12: 48108231-48108231 on Build GRCh38
rs764235346 Chr.12: 48108102-48108102 on Build GRCh38
rs768707570 Chr.12: 48108220-48108220 on Build GRCh38
rs375402222 Chr.12: 48108147-48108147 on Build GRCh38
rs373844201 Chr.12: 48108085-48108085 on Build GRCh38
rs185546675 Chr.12: 48108215-48108215 on Build GRCh38
rs1018589600 Chr.12: 48108189-48108189 on Build GRCh38
rs746803385 Chr.12: 48108167-48108167 on Build GRCh38
rs756600345 Chr.12: 48108140-48108140 on Build GRCh38
rs754534807 Chr.12: 48108151-48108151 on Build GRCh38
rs751338718 Chr.12: 48108049-48108049 on Build GRCh38
rs763035185 Chr.12: 48108090-48108090 on Build GRCh38
rs1000109846 Chr.12: 48108148-48108148 on Build GRCh38
rs371183330 Chr.12: 48108135-48108135 on Build GRCh38
rs368018099 Chr.12: 48108166-48108166 on Build GRCh38
rs760958605 Chr.12: 48108237-48108237 on Build GRCh38
rs770150027 Chr.12: 48108210-48108210 on Build GRCh38
rs950097608 Chr.12: 48108046-48108046 on Build GRCh38
rs376630326 Chr.12: 48108224-48108224 on Build GRCh38
rs12829121 Chr.12: 48108212-48108212 on Build GRCh38
rs772933970 Chr.12: 48108053-48108053 on Build GRCh38
rs758030714 Chr.12: 48108158-48108158 on Build GRCh38
rs767713331 Chr.12: 48108137-48108137 on Build GRCh38
rs762078353 Chr.12: 48108105-48108105 on Build GRCh38
rs776556348 Chr.12: 48108195-48108195 on Build GRCh38
rs984400806 Chr.12: 48108250-48108250 on Build GRCh38
rs770845267 Chr.12: 48108182-48108182 on Build GRCh38
rs747784684 Chr.12: 48108155-48108155 on Build GRCh38
rs567815273 Chr.12: 48108149-48108149 on Build GRCh38
rs188397537 Chr.12: 48108232-48108232 on Build GRCh38
rs767900815 Chr.12: 48108119-48108119 on Build GRCh38
rs766839353 Chr.12: 48108243-48108243 on Build GRCh38
rs371857406 Chr.12: 48108204-48108204 on Build GRCh38
rs969148254 Chr.12: 48108044-48108044 on Build GRCh38
rs753197256 Chr.12: 48108141-48108142 on Build GRCh38
rs960362766 Chr.12: 48108106-48108106 on Build GRCh38
rs775500085 Chr.12: 48108065-48108065 on Build GRCh38
rs547525484 Chr.12: 48108222-48108222 on Build GRCh38
rs778625802 Chr.12: 48108152-48108152 on Build GRCh38
rs1028534076 Chr.12: 48108238-48108238 on Build GRCh38

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