Product Details

Primer Sequences
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Primer Chromosome Location
Chr.12: 109573269-109573766 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 NM_000431.3 NM_001114185.2 NM_001301182.1 XM_011538372.2 XM_017019313.1

Gene Symbol
MVK
Entrez Gene ID
4598
Gene Name
mevalonate kinase
Gene Aliases
LRBP, MK, MVLK, POROK3
UniGene
Hs.130607
Gene Chromosome Location
Chr.12: 109573285-109597270 on Build GRCh38
Transcripts
NM_052845.3 NR_038118.1 NM_000431.3 NM_001114185.2 NM_001301182.1 XM_011538372.2 XM_017019313.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3687944 c.61T>A p.C21S Chr.12: 109573420-109573420 on Build GRCh38
6386802 c.74C>T p.A25V Chr.12: 109573407-109573407 on Build GRCh38
5840071 c.118G>A p.V40M Chr.12: 109573363-109573363 on Build GRCh38
3752891 c.57C>A p.R19R Chr.12: 109573424-109573424 on Build GRCh38
6713652 c.134+2T>C p.? Chr.12: 109573345-109573345 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs988933177 Chr.12: 109573679-109573679 on Build GRCh38
rs878914683 Chr.12: 109573669-109573669 on Build GRCh38
rs774022433 Chr.12: 109573517-109573517 on Build GRCh38
rs921511404 Chr.12: 109573625-109573625 on Build GRCh38
rs561340750 Chr.12: 109573662-109573662 on Build GRCh38
rs747649185 Chr.12: 109573349-109573349 on Build GRCh38
rs773816976 Chr.12: 109573417-109573417 on Build GRCh38
rs1013189071 Chr.12: 109573294-109573294 on Build GRCh38
rs921232728 Chr.12: 109573438-109573438 on Build GRCh38
rs773872061 Chr.12: 109573481-109573481 on Build GRCh38
rs762266634 Chr.12: 109573309-109573309 on Build GRCh38
rs1051133948 Chr.12: 109573455-109573455 on Build GRCh38
rs780055696 Chr.12: 109573597-109573597 on Build GRCh38
rs1053347096 Chr.12: 109573291-109573291 on Build GRCh38
rs560451620 Chr.12: 109573563-109573563 on Build GRCh38
rs142447736 Chr.12: 109573390-109573390 on Build GRCh38
rs1048129586 Chr.12: 109573516-109573516 on Build GRCh38
rs376611965 Chr.12: 109573418-109573418 on Build GRCh38
rs745645666 Chr.12: 109573456-109573456 on Build GRCh38
rs538337773 Chr.12: 109573322-109573322 on Build GRCh38
rs763383858 Chr.12: 109573420-109573420 on Build GRCh38
rs1038863236 Chr.12: 109573691-109573691 on Build GRCh38
rs767706407 Chr.12: 109573413-109573413 on Build GRCh38
rs762478326 Chr.12: 109573320-109573320 on Build GRCh38
rs554831769 Chr.12: 109573489-109573489 on Build GRCh38
rs780742465 Chr.12: 109573347-109573347 on Build GRCh38
rs774870605 Chr.12: 109573548-109573548 on Build GRCh38
rs67606936 Chr.12: 109573710-109573710 on Build GRCh38
rs550461600 Chr.12: 109573393-109573393 on Build GRCh38
rs934251931 Chr.12: 109573631-109573631 on Build GRCh38
rs36013132 Chr.12: 109573424-109573425 on Build GRCh38
rs1046046972 Chr.12: 109573492-109573492 on Build GRCh38
rs975640062 Chr.12: 109573605-109573605 on Build GRCh38
rs751108738 Chr.12: 109573334-109573334 on Build GRCh38
rs748526009 Chr.12: 109573425-109573444 on Build GRCh38
rs752617720 Chr.12: 109573742-109573742 on Build GRCh38
rs10774775 Chr.12: 109573425-109573425 on Build GRCh38
rs539715623 Chr.12: 109573403-109573403 on Build GRCh38
rs748326668 Chr.12: 109573529-109573529 on Build GRCh38
rs755568905 Chr.12: 109573440-109573440 on Build GRCh38
rs372246214 Chr.12: 109573325-109573325 on Build GRCh38
rs954043999 Chr.12: 109573607-109573607 on Build GRCh38
rs754533701 Chr.12: 109573342-109573342 on Build GRCh38
rs770130176 Chr.12: 109573530-109573530 on Build GRCh38
rs991767550 Chr.12: 109573510-109573510 on Build GRCh38
rs979285806 Chr.12: 109573652-109573652 on Build GRCh38
rs767177510 Chr.12: 109573486-109573486 on Build GRCh38
rs934926755 Chr.12: 109573288-109573288 on Build GRCh38
rs66486014 Chr.12: 109573660-109573660 on Build GRCh38
rs781334133 Chr.12: 109573290-109573290 on Build GRCh38
rs753337921 Chr.12: 109573566-109573566 on Build GRCh38
rs749127574 Chr.12: 109573382-109573382 on Build GRCh38
rs372195202 Chr.12: 109573484-109573484 on Build GRCh38
rs765119951 Chr.12: 109573569-109573569 on Build GRCh38
rs977547060 Chr.12: 109573391-109573391 on Build GRCh38
rs748025143 Chr.12: 109573298-109573298 on Build GRCh38
rs201589920 Chr.12: 109573315-109573315 on Build GRCh38
rs749112019 Chr.12: 109573450-109573450 on Build GRCh38
rs781570956 Chr.12: 109573522-109573522 on Build GRCh38
rs758642093 Chr.12: 109573324-109573324 on Build GRCh38
rs771468464 Chr.12: 109573482-109573482 on Build GRCh38
rs926129043 Chr.12: 109573485-109573485 on Build GRCh38
rs991822103 Chr.12: 109573378-109573378 on Build GRCh38
rs756081192 Chr.12: 109573371-109573371 on Build GRCh38
rs758285480 Chr.12: 109573595-109573595 on Build GRCh38
rs146668962 Chr.12: 109573471-109573471 on Build GRCh38
rs568934759 Chr.12: 109573729-109573729 on Build GRCh38
rs886048928 Chr.12: 109573549-109573549 on Build GRCh38
rs759921949 Chr.12: 109573556-109573556 on Build GRCh38
rs777787317 Chr.12: 109573533-109573533 on Build GRCh38
rs747142605 Chr.12: 109573397-109573397 on Build GRCh38
rs367986401 Chr.12: 109573321-109573321 on Build GRCh38
rs745473679 Chr.12: 109573555-109573556 on Build GRCh38
rs778888719 Chr.12: 109573511-109573511 on Build GRCh38
rs781464054 Chr.12: 109573423-109573424 on Build GRCh38
rs770873168 Chr.12: 109573289-109573289 on Build GRCh38
rs869320655 Chr.12: 109573479-109573479 on Build GRCh38
rs578147086 Chr.12: 109573541-109573541 on Build GRCh38
rs533819939 Chr.12: 109573446-109573446 on Build GRCh38
rs374802787 Chr.12: 109573429-109573429 on Build GRCh38
rs764013549 Chr.12: 109573317-109573317 on Build GRCh38
rs66647925 Chr.12: 109573681-109573681 on Build GRCh38
rs367711757 Chr.12: 109573437-109573437 on Build GRCh38
rs979170778 Chr.12: 109573550-109573550 on Build GRCh38
rs1033542912 Chr.12: 109573733-109573733 on Build GRCh38
rs888300524 Chr.12: 109573536-109573536 on Build GRCh38
rs10774774 Chr.12: 109573424-109573424 on Build GRCh38
rs750309946 Chr.12: 109573591-109573591 on Build GRCh38
rs758228736 Chr.12: 109573518-109573518 on Build GRCh38
rs879684260 Chr.12: 109573424-109573425 on Build GRCh38
rs187929763 Chr.12: 109573582-109573582 on Build GRCh38
rs769048646 Chr.12: 109573467-109573467 on Build GRCh38
rs770077320 Chr.12: 109573427-109573444 on Build GRCh38
rs150895111 Chr.12: 109573402-109573402 on Build GRCh38
rs750869383 Chr.12: 109573323-109573323 on Build GRCh38
rs1002444870 Chr.12: 109573726-109573726 on Build GRCh38
rs763730103 Chr.12: 109573565-109573565 on Build GRCh38
rs375376922 Chr.12: 109573487-109573487 on Build GRCh38
rs755501024 Chr.12: 109573314-109573315 on Build GRCh38
rs777662456 Chr.12: 109573379-109573379 on Build GRCh38
rs772383588 Chr.12: 109573312-109573312 on Build GRCh38
rs115069962 Chr.12: 109573293-109573293 on Build GRCh38
rs545283298 Chr.12: 109573560-109573560 on Build GRCh38
rs375777677 Chr.12: 109573302-109573302 on Build GRCh38
rs769702190 Chr.12: 109573299-109573299 on Build GRCh38
rs766597566 Chr.12: 109573421-109573421 on Build GRCh38
rs765869812 Chr.12: 109573415-109573415 on Build GRCh38
rs926104999 Chr.12: 109573552-109573552 on Build GRCh38
rs769930958 Chr.12: 109573472-109573472 on Build GRCh38
rs751944516 Chr.12: 109573422-109573422 on Build GRCh38
rs952546917 Chr.12: 109573356-109573356 on Build GRCh38
rs778630670 Chr.12: 109573453-109573453 on Build GRCh38
rs777289971 Chr.12: 109573319-109573319 on Build GRCh38
rs998064567 Chr.12: 109573602-109573603 on Build GRCh38
rs369927328 Chr.12: 109573498-109573498 on Build GRCh38
rs775525617 Chr.12: 109573314-109573314 on Build GRCh38
rs757088429 Chr.12: 109573451-109573451 on Build GRCh38

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