Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 245017063-245017334 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
EFCAB2
Entrez Gene ID
84288
Gene Name
EF-hand calcium binding domain 2
Gene Aliases
CFAP200, DRC8
UniGene
Hs.134857
Gene Chromosome Location
Chr.1: 244969739-245125228 on Build GRCh38
Transcripts
NM_001143943.1 NM_001290327.1 NM_032328.3 NR_026587.1 XM_011544300.2 XM_011544301.1 XM_011544302.2 XM_017002538.1 XM_017002539.1 XM_017002540.1 XM_017002541.1 XM_017002542.1 XM_017002543.1 XM_017002544.1 XM_017002545.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3943779 c.42A>T p.E14D Chr.1: 245017258-245017258 on Build GRCh38
6415549 c.48C>A p.H16Q Chr.1: 245017264-245017264 on Build GRCh38
7413394 c.89C>T p.S30L Chr.1: 245017305-245017305 on Build GRCh38
3943780 c.450A>T p.E150D Chr.1: 245017258-245017258 on Build GRCh38
3486421 c.46C>T p.H16Y Chr.1: 245017262-245017262 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs915915556 Chr.1: 245017158-245017158 on Build GRCh38
rs775866790 Chr.1: 245017293-245017293 on Build GRCh38
rs552542359 Chr.1: 245017305-245017305 on Build GRCh38
rs1041233841 Chr.1: 245017213-245017213 on Build GRCh38
rs141201591 Chr.1: 245017152-245017152 on Build GRCh38
rs770484365 Chr.1: 245017252-245017252 on Build GRCh38
rs999492652 Chr.1: 245017209-245017209 on Build GRCh38
rs748183245 Chr.1: 245017105-245017105 on Build GRCh38
rs111274577 Chr.1: 245017207-245017207 on Build GRCh38
rs745574038 Chr.1: 245017287-245017287 on Build GRCh38
rs952459057 Chr.1: 245017303-245017303 on Build GRCh38
rs1017347540 Chr.1: 245017198-245017198 on Build GRCh38
rs1056247555 Chr.1: 245017108-245017108 on Build GRCh38
rs181707634 Chr.1: 245017208-245017208 on Build GRCh38
rs750726515 Chr.1: 245017201-245017201 on Build GRCh38
rs747914743 Chr.1: 245017217-245017217 on Build GRCh38
rs763269336 Chr.1: 245017279-245017279 on Build GRCh38
rs769278827 Chr.1: 245017249-245017249 on Build GRCh38
rs772963416 Chr.1: 245017274-245017275 on Build GRCh38
rs760952805 Chr.1: 245017301-245017301 on Build GRCh38
rs144878367 Chr.1: 245017253-245017253 on Build GRCh38
rs903727092 Chr.1: 245017155-245017155 on Build GRCh38
rs777689010 Chr.1: 245017221-245017221 on Build GRCh38
rs747701341 Chr.1: 245017248-245017250 on Build GRCh38
rs748789882 Chr.1: 245017249-245017249 on Build GRCh38
rs188588337 Chr.1: 245017169-245017169 on Build GRCh38
rs1043070053 Chr.1: 245017185-245017185 on Build GRCh38
rs553409800 Chr.1: 245017290-245017290 on Build GRCh38
rs1028069960 Chr.1: 245017276-245017276 on Build GRCh38
rs568696553 Chr.1: 245017136-245017136 on Build GRCh38

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