Product Details

Primer Sequences
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Primer Chromosome Location
Chr.18: 23509084-23509351 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
C18orf8
Entrez Gene ID
29919
Gene Name
chromosome 18 open reading frame 8
Gene Aliases
HsT2591, MIC1, Mic-1
UniGene
Hs.464779
Gene Chromosome Location
Chr.18: 23503470-23531807 on Build GRCh38
Transcripts
NM_001276342.1 NM_001318707.1 NM_001318708.1 NM_001318709.1 NM_013326.4 XM_011525939.1 XM_017025717.1 XM_005258277.1 XM_005258279.2 XM_011526015.1

Gene Symbol
NPC1
Entrez Gene ID
4864
Gene Name
NPC intracellular cholesterol transporter 1
Gene Aliases
NPC
UniGene
Hs.464779
Gene Chromosome Location
Chr.18: 23506184-23586617 on Build GRCh38
Transcripts
NM_001276342.1 NM_001318707.1 NM_001318708.1 NM_001318709.1 NM_013326.4 XM_011525939.1 XM_017025717.1 XM_005258277.1 XM_005258279.2 XM_011526015.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1189655 c.395T>C p.I132T Chr.18: 23509266-23509266 on Build GRCh38
4933198 c.394A>G p.I132V Chr.18: 23509265-23509265 on Build GRCh38
279314 c.408+6A>C p.? Chr.18: 23509285-23509285 on Build GRCh38
987069 c.397G>A p.E133K Chr.18: 23509268-23509268 on Build GRCh38
2156087 c.388C>G p.Q130E Chr.18: 23509259-23509259 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs976319414 Chr.18: 23509144-23509144 on Build GRCh38
rs748349260 Chr.18: 23509182-23509182 on Build GRCh38
rs778081925 Chr.18: 23509312-23509312 on Build GRCh38
rs760893279 Chr.18: 23509252-23509252 on Build GRCh38
rs780077588 Chr.18: 23509327-23509327 on Build GRCh38
rs745678759 Chr.18: 23509317-23509317 on Build GRCh38
rs750794402 Chr.18: 23509234-23509234 on Build GRCh38
rs139269500 Chr.18: 23509119-23509119 on Build GRCh38
rs775245096 Chr.18: 23509197-23509197 on Build GRCh38
rs781131339 Chr.18: 23509193-23509193 on Build GRCh38
rs770907130 Chr.18: 23509183-23509183 on Build GRCh38
rs561469798 Chr.18: 23509168-23509168 on Build GRCh38
rs201825808 Chr.18: 23509200-23509200 on Build GRCh38
rs374639318 Chr.18: 23509206-23509206 on Build GRCh38
rs761437951 Chr.18: 23509208-23509208 on Build GRCh38
rs755127086 Chr.18: 23509262-23509262 on Build GRCh38
rs994429634 Chr.18: 23509171-23509171 on Build GRCh38
rs952662774 Chr.18: 23509177-23509177 on Build GRCh38
rs10221356 Chr.18: 23509111-23509111 on Build GRCh38
rs376293096 Chr.18: 23509299-23509299 on Build GRCh38
rs769433964 Chr.18: 23509325-23509325 on Build GRCh38
rs775415691 Chr.18: 23509176-23509177 on Build GRCh38
rs745593018 Chr.18: 23509194-23509194 on Build GRCh38
rs753034758 Chr.18: 23509268-23509268 on Build GRCh38
rs754260652 Chr.18: 23509259-23509259 on Build GRCh38
rs149741829 Chr.18: 23509176-23509176 on Build GRCh38
rs945676275 Chr.18: 23509221-23509221 on Build GRCh38
rs200801394 Chr.18: 23509323-23509323 on Build GRCh38
rs767932485 Chr.18: 23509217-23509217 on Build GRCh38
rs766933496 Chr.18: 23509258-23509258 on Build GRCh38
rs772239130 Chr.18: 23509153-23509155 on Build GRCh38
rs901232558 Chr.18: 23509123-23509123 on Build GRCh38
rs760730613 Chr.18: 23509259-23509259 on Build GRCh38
rs779225222 Chr.18: 23509179-23509179 on Build GRCh38
rs779114087 Chr.18: 23509266-23509266 on Build GRCh38
rs769786166 Chr.18: 23509196-23509196 on Build GRCh38

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