Product Details

Primer Sequences
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Primer Chromosome Location
Chr.4: 145655286-145655545 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
MMAA
Entrez Gene ID
166785
Gene Name
methylmalonic aciduria (cobalamin deficiency) cblA type
Gene Aliases
cblA
UniGene
Hs.452864
Gene Chromosome Location
Chr.4: 145619388-145660035 on Build GRCh38
Transcripts
NM_172250.2 XM_011531684.2 XM_011531685.2 XM_011531686.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
732480 c.1192A>C p.I398L Chr.4: 145655369-145655369 on Build GRCh38
732481 c.1156C>T p.R386W Chr.4: 145655333-145655333 on Build GRCh38
6713646 c.1111A>G p.I371V Chr.4: 145655288-145655288 on Build GRCh38
1186668 c.1133A>G p.H378R Chr.4: 145655310-145655310 on Build GRCh38
6713647 c.1157G>A p.R386Q Chr.4: 145655334-145655334 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs773712230 Chr.4: 145655475-145655476 on Build GRCh38
rs763715364 Chr.4: 145655427-145655427 on Build GRCh38
rs145539291 Chr.4: 145655397-145655397 on Build GRCh38
rs184111056 Chr.4: 145655413-145655413 on Build GRCh38
rs927149429 Chr.4: 145655359-145655359 on Build GRCh38
rs895867414 Chr.4: 145655375-145655375 on Build GRCh38
rs777459994 Chr.4: 145655370-145655370 on Build GRCh38
rs576991940 Chr.4: 145655450-145655450 on Build GRCh38
rs780219088 Chr.4: 145655475-145655475 on Build GRCh38
rs545633228 Chr.4: 145655502-145655502 on Build GRCh38
rs750994850 Chr.4: 145655463-145655463 on Build GRCh38
rs768964804 Chr.4: 145655352-145655352 on Build GRCh38
rs1030045984 Chr.4: 145655501-145655501 on Build GRCh38
rs781521709 Chr.4: 145655487-145655487 on Build GRCh38
rs767115507 Chr.4: 145655398-145655398 on Build GRCh38
rs374622922 Chr.4: 145655333-145655333 on Build GRCh38
rs886059090 Chr.4: 145655501-145655501 on Build GRCh38
rs954495106 Chr.4: 145655507-145655507 on Build GRCh38
rs754224809 Chr.4: 145655442-145655442 on Build GRCh38
rs144313458 Chr.4: 145655354-145655354 on Build GRCh38
rs766454544 Chr.4: 145655363-145655363 on Build GRCh38
rs760417305 Chr.4: 145655425-145655425 on Build GRCh38
rs368671164 Chr.4: 145655353-145655353 on Build GRCh38
rs191643294 Chr.4: 145655334-145655334 on Build GRCh38
rs747034747 Chr.4: 145655480-145655480 on Build GRCh38
rs779405529 Chr.4: 145655460-145655460 on Build GRCh38
rs758825838 Chr.4: 145655467-145655467 on Build GRCh38
rs1010401774 Chr.4: 145655314-145655314 on Build GRCh38
rs1000882062 Chr.4: 145655448-145655448 on Build GRCh38
rs267600029 Chr.4: 145655345-145655345 on Build GRCh38
rs374937807 Chr.4: 145655482-145655482 on Build GRCh38
rs962684570 Chr.4: 145655471-145655471 on Build GRCh38

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