Product Details

Primer Sequences
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Primer Chromosome Location
Chr.15: 48412468-48412642 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
FBN1
Entrez Gene ID
2200
Gene Name
fibrillin 1
Gene Aliases
ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
UniGene
Hs.591133
Gene Chromosome Location
Chr.15: 48408306-48645788 on Build GRCh38
Transcripts
NM_000138.4

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6661614 c.8164G>T p.G2722C Chr.15: 48412631-48412631 on Build GRCh38
3501807 c.8170C>T p.P2724S Chr.15: 48412625-48412625 on Build GRCh38
962361 c.8202C>T p.N2734N Chr.15: 48412593-48412593 on Build GRCh38
145401 c.8219A>G p.N2740S Chr.15: 48412576-48412576 on Build GRCh38
3501806 c.8203G>A p.E2735K Chr.15: 48412592-48412592 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs371098191 Chr.15: 48412550-48412550 on Build GRCh38
rs764898769 Chr.15: 48412566-48412566 on Build GRCh38
rs1031895791 Chr.15: 48412512-48412512 on Build GRCh38
rs754014086 Chr.15: 48412594-48412594 on Build GRCh38
rs750199580 Chr.15: 48412571-48412571 on Build GRCh38
rs758748297 Chr.15: 48412616-48412616 on Build GRCh38
rs193922242 Chr.15: 48412576-48412576 on Build GRCh38
rs892026928 Chr.15: 48412542-48412542 on Build GRCh38
rs552157433 Chr.15: 48412618-48412618 on Build GRCh38
rs398122833 Chr.15: 48412568-48412568 on Build GRCh38
rs751561225 Chr.15: 48412585-48412585 on Build GRCh38
rs768286378 Chr.15: 48412532-48412532 on Build GRCh38
rs876657410 Chr.15: 48412613-48412620 on Build GRCh38
rs1000875525 Chr.15: 48412509-48412509 on Build GRCh38
rs776364049 Chr.15: 48412543-48412543 on Build GRCh38
rs200231626 Chr.15: 48412606-48412606 on Build GRCh38
rs760249812 Chr.15: 48412518-48412518 on Build GRCh38
rs397515860 Chr.15: 48412577-48412577 on Build GRCh38
rs904651679 Chr.15: 48412508-48412508 on Build GRCh38
rs193922243 Chr.15: 48412564-48412564 on Build GRCh38
rs905233875 Chr.15: 48412540-48412540 on Build GRCh38
rs193922241 Chr.15: 48412592-48412592 on Build GRCh38
rs370096856 Chr.15: 48412610-48412610 on Build GRCh38
rs150065311 Chr.15: 48412572-48412572 on Build GRCh38
rs794728340 Chr.15: 48412597-48412597 on Build GRCh38
rs113904256 Chr.15: 48412593-48412593 on Build GRCh38
rs756124960 Chr.15: 48412592-48412592 on Build GRCh38
rs766502715 Chr.15: 48412510-48412510 on Build GRCh38
rs757532651 Chr.15: 48412595-48412595 on Build GRCh38

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