Product Details

Primer Sequences
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Primer Chromosome Location
Chr.10: 98431054-98431327 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
HPS1
Entrez Gene ID
3257
Gene Name
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
Gene Aliases
BLOC3S1, HPS
UniGene
Hs.404568
Gene Chromosome Location
Chr.10: 98415068-98446963 on Build GRCh38
Transcripts
NM_000195.4 NM_001311345.1 NM_001322476.1 NM_001322477.1 NM_001322478.1 NM_001322479.1 NM_001322480.1 NM_001322481.1 NM_001322482.1 NM_001322483.1 NM_001322484.1 NM_001322485.1 NM_001322487.1 NM_001322489.1 NM_001322490.1 NM_001322491.1 NM_001322492.1 NM_182639.3 XM_005269757.4 XM_017016170.1 XM_017016171.1 XM_017016172.1 XM_017016173.1 NR_039833.2

Gene Symbol
MIR4685
Entrez Gene ID
100616482
Gene Name
microRNA 4685
Gene Aliases
-
UniGene
Gene Chromosome Location
Chr.10: 98431292-98431360 on Build GRCh38
Transcripts
NM_000195.4 NM_001311345.1 NM_001322476.1 NM_001322477.1 NM_001322478.1 NM_001322479.1 NM_001322480.1 NM_001322481.1 NM_001322482.1 NM_001322483.1 NM_001322484.1 NM_001322485.1 NM_001322487.1 NM_001322489.1 NM_001322490.1 NM_001322491.1 NM_001322492.1 NM_182639.3 XM_005269757.4 XM_017016170.1 XM_017016171.1 XM_017016172.1 XM_017016173.1 NR_039833.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6436890 c.601C>T p.R201W Chr.10: 98431198-98431198 on Build GRCh38
4691079 c.590C>G p.T197S Chr.10: 98431209-98431209 on Build GRCh38
5415124 c.557C>T p.A186V Chr.10: 98431242-98431242 on Build GRCh38
4010895 c.628T>G p.F210V Chr.10: 98431171-98431171 on Build GRCh38
5642667 c.553G>C p.E185Q Chr.10: 98431246-98431246 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs747607498 Chr.10: 98431189-98431189 on Build GRCh38
rs995101971 Chr.10: 98431198-98431198 on Build GRCh38
rs763657233 Chr.10: 98431082-98431083 on Build GRCh38
rs746626404 Chr.10: 98431197-98431197 on Build GRCh38
rs757374077 Chr.10: 98431234-98431234 on Build GRCh38
rs138545743 Chr.10: 98431150-98431150 on Build GRCh38
rs547703715 Chr.10: 98431241-98431241 on Build GRCh38
rs770663141 Chr.10: 98431199-98431199 on Build GRCh38
rs764128905 Chr.10: 98431224-98431224 on Build GRCh38
rs760458446 Chr.10: 98431128-98431128 on Build GRCh38
rs1801286 Chr.10: 98431242-98431242 on Build GRCh38
rs781669033 Chr.10: 98431092-98431092 on Build GRCh38
rs113520308 Chr.10: 98431202-98431202 on Build GRCh38
rs764217045 Chr.10: 98431159-98431159 on Build GRCh38
rs762945274 Chr.10: 98431216-98431216 on Build GRCh38
rs771787857 Chr.10: 98431119-98431119 on Build GRCh38
rs184035986 Chr.10: 98431211-98431211 on Build GRCh38
rs765017604 Chr.10: 98431209-98431209 on Build GRCh38
rs776526833 Chr.10: 98431131-98431131 on Build GRCh38
rs936589271 Chr.10: 98431076-98431076 on Build GRCh38
rs772921062 Chr.10: 98431195-98431195 on Build GRCh38
rs755619001 Chr.10: 98431144-98431144 on Build GRCh38
rs1028581867 Chr.10: 98431229-98431229 on Build GRCh38
rs895627584 Chr.10: 98431175-98431175 on Build GRCh38
rs565505287 Chr.10: 98431185-98431185 on Build GRCh38
rs994752646 Chr.10: 98431217-98431217 on Build GRCh38
rs754389654 Chr.10: 98431279-98431279 on Build GRCh38
rs375885218 Chr.10: 98431097-98431097 on Build GRCh38
rs766080221 Chr.10: 98431130-98431130 on Build GRCh38
rs746269192 Chr.10: 98431176-98431176 on Build GRCh38
rs781390534 Chr.10: 98431173-98431173 on Build GRCh38
rs756541586 Chr.10: 98431178-98431178 on Build GRCh38
rs1019065942 Chr.10: 98431258-98431258 on Build GRCh38
rs937409753 Chr.10: 98431158-98431158 on Build GRCh38
rs370266849 Chr.10: 98431112-98431112 on Build GRCh38
rs771691792 Chr.10: 98431190-98431190 on Build GRCh38
rs758477619 Chr.10: 98431151-98431151 on Build GRCh38
rs773688754 Chr.10: 98431102-98431102 on Build GRCh38
rs746538399 Chr.10: 98431287-98431287 on Build GRCh38
rs538274657 Chr.10: 98431282-98431282 on Build GRCh38
rs376436969 Chr.10: 98431233-98431233 on Build GRCh38
rs773015412 Chr.10: 98431120-98431120 on Build GRCh38
rs370788424 Chr.10: 98431201-98431201 on Build GRCh38
rs777392493 Chr.10: 98431281-98431281 on Build GRCh38
rs756518801 Chr.10: 98431250-98431250 on Build GRCh38
rs780626717 Chr.10: 98431270-98431270 on Build GRCh38
rs281865079 Chr.10: 98431266-98431267 on Build GRCh38
rs770383183 Chr.10: 98431099-98431099 on Build GRCh38
rs780017737 Chr.10: 98431162-98431162 on Build GRCh38
rs1801287 Chr.10: 98431163-98431163 on Build GRCh38
rs759367703 Chr.10: 98431139-98431139 on Build GRCh38

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