Product Details

Primer Sequences
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Primer Chromosome Location
Chr.12: 39553977-39554228 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
ABCD2
Entrez Gene ID
225
Gene Name
ATP binding cassette subfamily D member 2
Gene Aliases
ABC39, ALDL1, ALDR, ALDRP, hALDR
UniGene
Hs.117852
Gene Chromosome Location
Chr.12: 39530966-39651333 on Build GRCh38
Transcripts
NM_005164.3 XM_011538027.2 XM_017018992.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1299339 c.2092G>A p.E698K Chr.12: 39554043-39554043 on Build GRCh38
5478221 c.2114C>A p.S705Y Chr.12: 39554021-39554021 on Build GRCh38
5799119 c.2059C>T p.Q687* Chr.12: 39554076-39554076 on Build GRCh38
6072387 c.2041G>A p.G681R Chr.12: 39554094-39554094 on Build GRCh38
1562134 c.2004G>T p.W668C Chr.12: 39554131-39554131 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs762943721 Chr.12: 39554026-39554026 on Build GRCh38
rs749976817 Chr.12: 39554058-39554058 on Build GRCh38
rs377751649 Chr.12: 39554057-39554057 on Build GRCh38
rs1011489376 Chr.12: 39554190-39554190 on Build GRCh38
rs201341629 Chr.12: 39554162-39554162 on Build GRCh38
rs764057994 Chr.12: 39554034-39554034 on Build GRCh38
rs1052791294 Chr.12: 39554089-39554089 on Build GRCh38
rs762854191 Chr.12: 39554167-39554167 on Build GRCh38
rs769551168 Chr.12: 39554145-39554145 on Build GRCh38
rs773117878 Chr.12: 39554118-39554118 on Build GRCh38
rs772313596 Chr.12: 39554091-39554091 on Build GRCh38
rs944259941 Chr.12: 39554060-39554060 on Build GRCh38
rs766637800 Chr.12: 39554137-39554140 on Build GRCh38
rs779301167 Chr.12: 39554084-39554084 on Build GRCh38
rs760822721 Chr.12: 39554128-39554128 on Build GRCh38
rs780619465 Chr.12: 39554073-39554073 on Build GRCh38
rs188241882 Chr.12: 39554040-39554040 on Build GRCh38
rs748340230 Chr.12: 39554085-39554085 on Build GRCh38
rs202117269 Chr.12: 39554043-39554043 on Build GRCh38
rs59009731 Chr.12: 39554083-39554083 on Build GRCh38
rs756525333 Chr.12: 39554061-39554061 on Build GRCh38
rs892833905 Chr.12: 39554154-39554156 on Build GRCh38
rs752634658 Chr.12: 39554001-39554001 on Build GRCh38

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