Product Details

Primer Sequences
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Primer Chromosome Location
Chr.5: 74720979-74721501 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
GFM2
Entrez Gene ID
84340
Gene Name
G elongation factor mitochondrial 2
Gene Aliases
EF-G2mt, EFG2, MRRF2, MST027, MSTP027, RRF2, RRF2mt, hEFG2, mEF-G 2
UniGene
Hs.277154
Gene Chromosome Location
Chr.5: 74721204-74767371 on Build GRCh38
Transcripts
NM_001281302.1 NM_032380.4 NM_170691.2 NR_104006.1 XM_017009986.1 NM_000521.3 NM_001292004.1

Gene Symbol
HEXB
Entrez Gene ID
3074
Gene Name
hexosaminidase subunit beta
Gene Aliases
ENC-1AS, HEL-248, HEL-S-111
UniGene
Hs.69293
Gene Chromosome Location
Chr.5: 74640023-74721288 on Build GRCh38
Transcripts
NM_001281302.1 NM_032380.4 NM_170691.2 NR_104006.1 XM_017009986.1 NM_000521.3 NM_001292004.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3828403 c.1636C>G p.L546V Chr.5: 74721140-74721140 on Build GRCh38
5979013 c.1627G>A p.A543T Chr.5: 74721131-74721131 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs767328479 Chr.5: 74721296-74721296 on Build GRCh38
rs748707619 Chr.5: 74721194-74721194 on Build GRCh38
rs141358769 Chr.5: 74721046-74721047 on Build GRCh38
rs181913795 Chr.5: 74721054-74721054 on Build GRCh38
rs767663018 Chr.5: 74721129-74721129 on Build GRCh38
rs141762746 Chr.5: 74721052-74721052 on Build GRCh38
rs745418134 Chr.5: 74721153-74721154 on Build GRCh38
rs779204902 Chr.5: 74721188-74721188 on Build GRCh38
rs763177573 Chr.5: 74721277-74721279 on Build GRCh38
rs770181825 Chr.5: 74721208-74721222 on Build GRCh38
rs866356524 Chr.5: 74721210-74721210 on Build GRCh38
rs191033237 Chr.5: 74721419-74721419 on Build GRCh38
rs956856503 Chr.5: 74721394-74721394 on Build GRCh38
rs780502340 Chr.5: 74721106-74721106 on Build GRCh38
rs757103269 Chr.5: 74721170-74721170 on Build GRCh38
rs777009900 Chr.5: 74721280-74721280 on Build GRCh38
rs760669414 Chr.5: 74721209-74721209 on Build GRCh38
rs775884451 Chr.5: 74721112-74721112 on Build GRCh38
rs949582131 Chr.5: 74721022-74721023 on Build GRCh38
rs978674550 Chr.5: 74721214-74721214 on Build GRCh38
rs766477016 Chr.5: 74721134-74721134 on Build GRCh38
rs377533296 Chr.5: 74721072-74721081 on Build GRCh38
rs576145664 Chr.5: 74721174-74721174 on Build GRCh38
rs979593314 Chr.5: 74721057-74721057 on Build GRCh38
rs900199640 Chr.5: 74721374-74721374 on Build GRCh38
rs377347587 Chr.5: 74721085-74721088 on Build GRCh38
rs1048010625 Chr.5: 74721044-74721047 on Build GRCh38
rs727503961 Chr.5: 74721156-74721156 on Build GRCh38
rs917999641 Chr.5: 74721247-74721247 on Build GRCh38
rs398123448 Chr.5: 74721149-74721149 on Build GRCh38
rs111631698 Chr.5: 74721117-74721117 on Build GRCh38
rs746579281 Chr.5: 74721080-74721080 on Build GRCh38
rs562077509 Chr.5: 74721249-74721249 on Build GRCh38
rs551388345 Chr.5: 74721055-74721082 on Build GRCh38
rs879185318 Chr.5: 74721379-74721379 on Build GRCh38
rs756032758 Chr.5: 74721084-74721085 on Build GRCh38
rs745567727 Chr.5: 74721110-74721110 on Build GRCh38
rs56312827 Chr.5: 74721257-74721258 on Build GRCh38
rs1051493453 Chr.5: 74721411-74721411 on Build GRCh38
rs755860458 Chr.5: 74721179-74721179 on Build GRCh38
rs896681432 Chr.5: 74721005-74721005 on Build GRCh38
rs540663056 Chr.5: 74721081-74721084 on Build GRCh38
rs767564629 Chr.5: 74721078-74721079 on Build GRCh38
rs540446021 Chr.5: 74721237-74721237 on Build GRCh38
rs372461509 Chr.5: 74721074-74721074 on Build GRCh38
rs778385185 Chr.5: 74721147-74721148 on Build GRCh38
rs201485365 Chr.5: 74721257-74721257 on Build GRCh38
rs761862224 Chr.5: 74721291-74721291 on Build GRCh38
rs764229245 Chr.5: 74721477-74721481 on Build GRCh38
rs771215231 Chr.5: 74721278-74721279 on Build GRCh38
rs184908092 Chr.5: 74721215-74721215 on Build GRCh38
rs769012312 Chr.5: 74721187-74721187 on Build GRCh38
rs969363591 Chr.5: 74721421-74721421 on Build GRCh38
rs924098853 Chr.5: 74721058-74721058 on Build GRCh38
rs999009863 Chr.5: 74721328-74721328 on Build GRCh38
rs75974765 Chr.5: 74721184-74721184 on Build GRCh38
rs201448394 Chr.5: 74721104-74721104 on Build GRCh38
rs769208361 Chr.5: 74721120-74721120 on Build GRCh38
rs992354118 Chr.5: 74721097-74721097 on Build GRCh38
rs755630639 Chr.5: 74721044-74721081 on Build GRCh38
rs773378748 Chr.5: 74721207-74721207 on Build GRCh38
rs908012860 Chr.5: 74721310-74721310 on Build GRCh38
rs763927371 Chr.5: 74721159-74721159 on Build GRCh38
rs562192930 Chr.5: 74721409-74721409 on Build GRCh38
rs774851843 Chr.5: 74721126-74721126 on Build GRCh38
rs121907984 Chr.5: 74721131-74721131 on Build GRCh38
rs770675957 Chr.5: 74721255-74721256 on Build GRCh38
rs564717043 Chr.5: 74721282-74721282 on Build GRCh38
rs1006435218 Chr.5: 74721048-74721048 on Build GRCh38
rs751546872 Chr.5: 74721163-74721163 on Build GRCh38
rs748881590 Chr.5: 74721186-74721186 on Build GRCh38
rs543895875 Chr.5: 74721402-74721402 on Build GRCh38
rs532111687 Chr.5: 74721284-74721284 on Build GRCh38
rs774367605 Chr.5: 74721299-74721302 on Build GRCh38
rs749646826 Chr.5: 74721119-74721119 on Build GRCh38
rs1031194254 Chr.5: 74721342-74721342 on Build GRCh38
rs777622409 Chr.5: 74721098-74721107 on Build GRCh38
rs1048088 Chr.5: 74721197-74721197 on Build GRCh38
rs751354498 Chr.5: 74721289-74721289 on Build GRCh38
rs113418900 Chr.5: 74721116-74721116 on Build GRCh38
rs753474488 Chr.5: 74721098-74721099 on Build GRCh38
rs144354696 Chr.5: 74721042-74721069 on Build GRCh38
rs779666774 Chr.5: 74721181-74721181 on Build GRCh38
rs769283153 Chr.5: 74721111-74721111 on Build GRCh38
rs909259936 Chr.5: 74721124-74721124 on Build GRCh38
rs752609387 Chr.5: 74721137-74721137 on Build GRCh38
rs750005342 Chr.5: 74721314-74721314 on Build GRCh38
rs771506320 Chr.5: 74721173-74721174 on Build GRCh38
rs990943795 Chr.5: 74721242-74721242 on Build GRCh38
rs140627230 Chr.5: 74721171-74721171 on Build GRCh38
rs577816925 Chr.5: 74721212-74721213 on Build GRCh38
rs762159332 Chr.5: 74721128-74721128 on Build GRCh38
rs1164691 Chr.5: 74721319-74721319 on Build GRCh38
rs1021348050 Chr.5: 74721045-74721045 on Build GRCh38
rs772432450 Chr.5: 74721206-74721206 on Build GRCh38
rs756912360 Chr.5: 74721101-74721102 on Build GRCh38
rs781675849 Chr.5: 74721183-74721184 on Build GRCh38
rs748646760 Chr.5: 74721193-74721193 on Build GRCh38
rs1037904250 Chr.5: 74721354-74721354 on Build GRCh38

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