Product Details

Primer Sequences
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Primer Chromosome Location
Chr.15: 48410779-48411038 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
3981538 c.8605T>A p.L2869M Chr.15: 48411001-48411001 on Build GRCh38
3816221 c.8592G>A p.M2864I Chr.15: 48411014-48411014 on Build GRCh38
2190258 c.8569G>A p.E2857K Chr.15: 48411037-48411037 on Build GRCh38
3794210 c.8592G>C p.M2864I Chr.15: 48411014-48411014 on Build GRCh38
5421782 c.8616A>G p.*2872* Chr.15: 48410990-48410990 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs755780314 Chr.15: 48410872-48410872 on Build GRCh38
rs558426880 Chr.15: 48410945-48410945 on Build GRCh38
rs756841264 Chr.15: 48410981-48410981 on Build GRCh38
rs879588724 Chr.15: 48410864-48410865 on Build GRCh38
rs747869849 Chr.15: 48410953-48410953 on Build GRCh38
rs111609067 Chr.15: 48410868-48410868 on Build GRCh38
rs374499193 Chr.15: 48410990-48410990 on Build GRCh38
rs933378359 Chr.15: 48410833-48410833 on Build GRCh38
rs144710695 Chr.15: 48410947-48410947 on Build GRCh38
rs181952614 Chr.15: 48410903-48410903 on Build GRCh38
rs794728288 Chr.15: 48411007-48411007 on Build GRCh38
rs363848 Chr.15: 48411000-48411000 on Build GRCh38
rs375465265 Chr.15: 48410957-48410957 on Build GRCh38
rs1038325459 Chr.15: 48410898-48410898 on Build GRCh38
rs1047830611 Chr.15: 48410834-48410834 on Build GRCh38
rs540032372 Chr.15: 48410942-48410942 on Build GRCh38
rs779555895 Chr.15: 48410939-48410939 on Build GRCh38
rs1012492700 Chr.15: 48410910-48410910 on Build GRCh38
rs749239153 Chr.15: 48410962-48410962 on Build GRCh38
rs363849 Chr.15: 48410933-48410933 on Build GRCh38
rs1031307366 Chr.15: 48410902-48410904 on Build GRCh38
rs923299493 Chr.15: 48410803-48410803 on Build GRCh38
rs772219204 Chr.15: 48410994-48410994 on Build GRCh38
rs562749473 Chr.15: 48410883-48410883 on Build GRCh38
rs942224869 Chr.15: 48410887-48410887 on Build GRCh38
rs200197842 Chr.15: 48410955-48410955 on Build GRCh38
rs767810836 Chr.15: 48410850-48410850 on Build GRCh38
rs554631037 Chr.15: 48410843-48410843 on Build GRCh38
rs958084888 Chr.15: 48410999-48410999 on Build GRCh38
rs190757129 Chr.15: 48410863-48410863 on Build GRCh38
rs397515866 Chr.15: 48411000-48411001 on Build GRCh38
rs891030975 Chr.15: 48410921-48410921 on Build GRCh38
rs895406015 Chr.15: 48410908-48410908 on Build GRCh38
rs751177817 Chr.15: 48410940-48410940 on Build GRCh38
rs397515865 Chr.15: 48411006-48411006 on Build GRCh38

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