Product Details

Primer Sequences
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Primer Chromosome Location
Chr.6: 127314835-127315060 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
ECHDC1
Entrez Gene ID
55862
Gene Name
ethylmalonyl-CoA decarboxylase 1
Gene Aliases
HEL-S-76, MMCD, dJ351K20.2
UniGene
Hs.486410
Gene Chromosome Location
Chr.6: 127288712-127343609 on Build GRCh38
Transcripts
NM_001002030.1 NM_001105544.1 NM_001105545.1 NM_001139510.1 NM_018479.3 XM_005267047.2 XM_005267048.1 XM_005267049.2 XM_005267050.2 XM_011535942.2 XM_011535943.2 XM_017011056.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1072979 c.456G>A p.A152A Chr.6: 127314875-127314875 on Build GRCh38
1072980 c.385G>A p.A129T Chr.6: 127314875-127314875 on Build GRCh38
5486516 c.452T>C p.V151A Chr.6: 127314879-127314879 on Build GRCh38
5486517 c.381T>C p.C127C Chr.6: 127314879-127314879 on Build GRCh38
7261681 c.383G>A p.C128Y Chr.6: 127314877-127314877 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs547307421 Chr.6: 127314961-127314961 on Build GRCh38
rs940362527 Chr.6: 127315027-127315027 on Build GRCh38
rs767323362 Chr.6: 127314966-127314968 on Build GRCh38
rs776540701 Chr.6: 127314963-127314963 on Build GRCh38
rs146146402 Chr.6: 127314876-127314876 on Build GRCh38
rs367829930 Chr.6: 127315004-127315004 on Build GRCh38
rs777898254 Chr.6: 127314891-127314891 on Build GRCh38
rs755694377 Chr.6: 127314904-127314904 on Build GRCh38
rs535637553 Chr.6: 127314931-127314931 on Build GRCh38
rs762001020 Chr.6: 127314965-127314965 on Build GRCh38
rs761934091 Chr.6: 127314862-127314862 on Build GRCh38
rs749270818 Chr.6: 127314984-127314984 on Build GRCh38
rs751460672 Chr.6: 127315013-127315013 on Build GRCh38
rs780327409 Chr.6: 127314882-127314882 on Build GRCh38
rs772427543 Chr.6: 127314933-127314933 on Build GRCh38
rs762770431 Chr.6: 127314977-127314977 on Build GRCh38
rs776027372 Chr.6: 127314909-127314910 on Build GRCh38
rs747498203 Chr.6: 127314959-127314959 on Build GRCh38
rs765328292 Chr.6: 127314966-127314966 on Build GRCh38
rs763358235 Chr.6: 127314910-127314910 on Build GRCh38
rs755132805 Chr.6: 127315025-127315025 on Build GRCh38
rs777534740 Chr.6: 127314925-127314925 on Build GRCh38
rs775913420 Chr.6: 127314947-127314947 on Build GRCh38
rs983005936 Chr.6: 127315005-127315005 on Build GRCh38
rs773513620 Chr.6: 127314972-127314972 on Build GRCh38
rs186749074 Chr.6: 127314928-127314928 on Build GRCh38
rs866592396 Chr.6: 127314909-127314909 on Build GRCh38
rs765535043 Chr.6: 127314863-127314863 on Build GRCh38
rs369602393 Chr.6: 127314875-127314875 on Build GRCh38
rs376600385 Chr.6: 127314899-127314899 on Build GRCh38
rs1028071902 Chr.6: 127314906-127314906 on Build GRCh38
rs111828900 Chr.6: 127315002-127315002 on Build GRCh38
rs964466333 Chr.6: 127314960-127314960 on Build GRCh38
rs780555626 Chr.6: 127314886-127314886 on Build GRCh38
rs955159970 Chr.6: 127314924-127314924 on Build GRCh38

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