Product Details

Primer Sequences
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Primer Chromosome Location
Chr.4: 145645991-145646246 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
4845053 c.730G>A p.V244I Chr.4: 145646153-145646153 on Build GRCh38
6488843 c.702G>C p.A234A Chr.4: 145646125-145646125 on Build GRCh38
5982102 c.660_661insAC p.R222fs*18 Chr.4: 145646083-145646084 on Build GRCh38
5501602 c.669C>G p.T223T Chr.4: 145646092-145646092 on Build GRCh38
732482 c.658G>C p.V220L Chr.4: 145646081-145646081 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs367609164 Chr.4: 145646124-145646124 on Build GRCh38
rs763324433 Chr.4: 145646097-145646097 on Build GRCh38
rs773516780 Chr.4: 145646045-145646045 on Build GRCh38
rs760732816 Chr.4: 145646055-145646055 on Build GRCh38
rs371897312 Chr.4: 145646191-145646191 on Build GRCh38
rs920825350 Chr.4: 145646087-145646087 on Build GRCh38
rs776168690 Chr.4: 145646070-145646070 on Build GRCh38
rs370375675 Chr.4: 145646033-145646033 on Build GRCh38
rs752844506 Chr.4: 145646141-145646141 on Build GRCh38
rs150376474 Chr.4: 145646081-145646081 on Build GRCh38
rs864309730 Chr.4: 145646076-145646076 on Build GRCh38
rs371068331 Chr.4: 145646145-145646145 on Build GRCh38
rs1036460255 Chr.4: 145646099-145646099 on Build GRCh38
rs750014244 Chr.4: 145646096-145646096 on Build GRCh38
rs866533353 Chr.4: 145646057-145646057 on Build GRCh38
rs771832448 Chr.4: 145646052-145646052 on Build GRCh38
rs779939886 Chr.4: 145646157-145646157 on Build GRCh38
rs751861917 Chr.4: 145646118-145646118 on Build GRCh38
rs104893849 Chr.4: 145646043-145646043 on Build GRCh38
rs781525637 Chr.4: 145646125-145646125 on Build GRCh38
rs140356252 Chr.4: 145646073-145646073 on Build GRCh38
rs745687257 Chr.4: 145646050-145646050 on Build GRCh38
rs116773849 Chr.4: 145646020-145646020 on Build GRCh38
rs768662983 Chr.4: 145646169-145646169 on Build GRCh38
rs138111772 Chr.4: 145646152-145646152 on Build GRCh38
rs374347679 Chr.4: 145646053-145646053 on Build GRCh38
rs941689476 Chr.4: 145646082-145646082 on Build GRCh38
rs768447137 Chr.4: 145646069-145646069 on Build GRCh38
rs756221585 Chr.4: 145646144-145646144 on Build GRCh38
rs181243452 Chr.4: 145646202-145646202 on Build GRCh38
rs771044996 Chr.4: 145646153-145646153 on Build GRCh38
rs550798043 Chr.4: 145646192-145646192 on Build GRCh38
rs201970426 Chr.4: 145646205-145646205 on Build GRCh38
rs746758730 Chr.4: 145646168-145646168 on Build GRCh38
rs1018915498 Chr.4: 145646035-145646035 on Build GRCh38
rs762728569 Chr.4: 145646203-145646203 on Build GRCh38

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