Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 228166102-228166337 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
IBA57
Entrez Gene ID
200205
Gene Name
IBA57 homolog, iron-sulfur cluster assembly
Gene Aliases
C1orf69, MMDS3, SPG74
UniGene
Hs.237017
Gene Chromosome Location
Chr.1: 228165808-228182257 on Build GRCh38
Transcripts
NM_001010867.3

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4804559 c.310G>T p.G104C Chr.1: 228166126-228166126 on Build GRCh38
1601790 c.287A>G p.Y96C Chr.1: 228166103-228166103 on Build GRCh38
4485894 c.298C>T p.L100L Chr.1: 228166114-228166114 on Build GRCh38
5696808 c.341+3G>T p.? Chr.1: 228166160-228166160 on Build GRCh38
4957959 c.318G>T p.T106T Chr.1: 228166134-228166134 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs753218907 Chr.1: 228166120-228166120 on Build GRCh38
rs1021328419 Chr.1: 228166157-228166157 on Build GRCh38
rs555729363 Chr.1: 228166180-228166180 on Build GRCh38
rs778374267 Chr.1: 228166123-228166123 on Build GRCh38
rs936626275 Chr.1: 228166126-228166126 on Build GRCh38
rs866484244 Chr.1: 228166156-228166156 on Build GRCh38
rs776305860 Chr.1: 228166284-228166284 on Build GRCh38
rs746086631 Chr.1: 228166142-228166142 on Build GRCh38
rs968780681 Chr.1: 228166163-228166163 on Build GRCh38
rs781627051 Chr.1: 228166139-228166139 on Build GRCh38
rs767298062 Chr.1: 228166170-228166170 on Build GRCh38
rs996437544 Chr.1: 228166278-228166278 on Build GRCh38
rs567029973 Chr.1: 228166124-228166124 on Build GRCh38
rs772799682 Chr.1: 228166179-228166179 on Build GRCh38
rs954893581 Chr.1: 228166224-228166224 on Build GRCh38
rs1002692124 Chr.1: 228166137-228166137 on Build GRCh38
rs769854120 Chr.1: 228166145-228166145 on Build GRCh38
rs914514776 Chr.1: 228166135-228166135 on Build GRCh38
rs370043210 Chr.1: 228166166-228166166 on Build GRCh38
rs866741256 Chr.1: 228166143-228166143 on Build GRCh38
rs760378345 Chr.1: 228166184-228166184 on Build GRCh38
rs775646159 Chr.1: 228166151-228166151 on Build GRCh38
rs987571656 Chr.1: 228166315-228166315 on Build GRCh38
rs774251320 Chr.1: 228166162-228166162 on Build GRCh38
rs569510824 Chr.1: 228166255-228166255 on Build GRCh38
rs536036624 Chr.1: 228166161-228166161 on Build GRCh38
rs759005478 Chr.1: 228166121-228166121 on Build GRCh38
rs757660331 Chr.1: 228166128-228166128 on Build GRCh38
rs757794637 Chr.1: 228166132-228166132 on Build GRCh38
rs1053773776 Chr.1: 228166132-228166132 on Build GRCh38
rs765906176 Chr.1: 228166204-228166204 on Build GRCh38
rs964972649 Chr.1: 228166217-228166217 on Build GRCh38
rs374199925 Chr.1: 228166177-228166177 on Build GRCh38
rs376565647 Chr.1: 228166155-228166155 on Build GRCh38

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