Product Details

Primer Sequences
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Primer Chromosome Location
Chr.12: 109568492-109568920 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
MMAB
Entrez Gene ID
326625
Gene Name
methylmalonic aciduria (cobalamin deficiency) cblB type
Gene Aliases
ATR, CFAP23, cblB, cob
UniGene
Hs.12106
Gene Chromosome Location
Chr.12: 109553715-109573553 on Build GRCh38
Transcripts
NM_052845.3 NR_038118.1 XM_011538267.2 XM_011538269.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
7148908 c.250G>C p.E84Q Chr.12: 109568810-109568810 on Build GRCh38
4633522 c.210C>A p.T70T Chr.12: 109568850-109568850 on Build GRCh38
5840070 c.218G>A p.G73E Chr.12: 109568842-109568842 on Build GRCh38
254826 c.238G>A p.D80N Chr.12: 109568822-109568822 on Build GRCh38
4038572 c.290+2T>C p.? Chr.12: 109568768-109568768 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs572383545 Chr.12: 109568825-109568825 on Build GRCh38
rs267603297 Chr.12: 109568835-109568835 on Build GRCh38
rs771667098 Chr.12: 109568853-109568853 on Build GRCh38
rs745393254 Chr.12: 109568820-109568820 on Build GRCh38
rs1052016367 Chr.12: 109568712-109568712 on Build GRCh38
rs560890899 Chr.12: 109568701-109568701 on Build GRCh38
rs143935056 Chr.12: 109568804-109568804 on Build GRCh38
rs778256928 Chr.12: 109568785-109568785 on Build GRCh38
rs11836136 Chr.12: 109568707-109568707 on Build GRCh38
rs771397493 Chr.12: 109568606-109568606 on Build GRCh38
rs770743560 Chr.12: 109568806-109568806 on Build GRCh38
rs192496152 Chr.12: 109568671-109568671 on Build GRCh38
rs911759681 Chr.12: 109568716-109568716 on Build GRCh38
rs188108728 Chr.12: 109568641-109568641 on Build GRCh38
rs552591735 Chr.12: 109568561-109568561 on Build GRCh38
rs1045562976 Chr.12: 109568693-109568693 on Build GRCh38
rs1012821810 Chr.12: 109568601-109568601 on Build GRCh38
rs371396538 Chr.12: 109568730-109568730 on Build GRCh38
rs864309511 Chr.12: 109568770-109568770 on Build GRCh38
rs1036425973 Chr.12: 109568525-109568525 on Build GRCh38
rs530178672 Chr.12: 109568673-109568673 on Build GRCh38
rs958047133 Chr.12: 109568687-109568687 on Build GRCh38
rs147297426 Chr.12: 109568854-109568854 on Build GRCh38
rs565354033 Chr.12: 109568884-109568884 on Build GRCh38
rs763935916 Chr.12: 109568864-109568864 on Build GRCh38
rs1055617046 Chr.12: 109568708-109568708 on Build GRCh38
rs200944407 Chr.12: 109568738-109568738 on Build GRCh38
rs989481968 Chr.12: 109568694-109568694 on Build GRCh38
rs113284916 Chr.12: 109568566-109568566 on Build GRCh38
rs910906142 Chr.12: 109568585-109568585 on Build GRCh38
rs764002548 Chr.12: 109568739-109568739 on Build GRCh38
rs546939788 Chr.12: 109568878-109568878 on Build GRCh38
rs912961673 Chr.12: 109568684-109568684 on Build GRCh38
rs978394355 Chr.12: 109568629-109568629 on Build GRCh38
rs62000414 Chr.12: 109568772-109568772 on Build GRCh38
rs766558253 Chr.12: 109568756-109568756 on Build GRCh38
rs775447652 Chr.12: 109568727-109568727 on Build GRCh38
rs72650196 Chr.12: 109568583-109568583 on Build GRCh38
rs997974176 Chr.12: 109568732-109568732 on Build GRCh38
rs864309509 Chr.12: 109568773-109568773 on Build GRCh38
rs542358277 Chr.12: 109568681-109568681 on Build GRCh38
rs143988074 Chr.12: 109568519-109568519 on Build GRCh38
rs758687280 Chr.12: 109568744-109568744 on Build GRCh38
rs758683311 Chr.12: 109568536-109568536 on Build GRCh38
rs906997097 Chr.12: 109568705-109568705 on Build GRCh38
rs756445649 Chr.12: 109568776-109568776 on Build GRCh38
rs894225131 Chr.12: 109568805-109568805 on Build GRCh38
rs571555515 Chr.12: 109568813-109568813 on Build GRCh38
rs923914200 Chr.12: 109568666-109568666 on Build GRCh38
rs751690770 Chr.12: 109568759-109568759 on Build GRCh38
rs1025179128 Chr.12: 109568621-109568621 on Build GRCh38
rs898846281 Chr.12: 109568541-109568541 on Build GRCh38
rs755006914 Chr.12: 109568771-109568771 on Build GRCh38
rs776530765 Chr.12: 109568875-109568875 on Build GRCh38
rs1006166601 Chr.12: 109568715-109568715 on Build GRCh38
rs953661136 Chr.12: 109568562-109568562 on Build GRCh38
rs748625642 Chr.12: 109568774-109568774 on Build GRCh38
rs971368184 Chr.12: 109568623-109568623 on Build GRCh38
rs994513423 Chr.12: 109568795-109568795 on Build GRCh38
rs186844737 Chr.12: 109568622-109568622 on Build GRCh38

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