Product Details

Primer Sequences
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Primer Chromosome Location
Chr.15: 48420419-48420963 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
4055299 c.7727G>A p.R2576H Chr.15: 48420779-48420779 on Build GRCh38
6491316 c.7777C>A p.P2593T Chr.15: 48420729-48420729 on Build GRCh38
4417655 c.7819+8A>C p.? Chr.15: 48420679-48420679 on Build GRCh38
5651798 c.7702G>A p.V2568M Chr.15: 48420804-48420804 on Build GRCh38
6578408 c.7700-8T>G p.? Chr.15: 48420814-48420814 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs932814736 Chr.15: 48420892-48420892 on Build GRCh38
rs193922236 Chr.15: 48420700-48420700 on Build GRCh38
rs890751440 Chr.15: 48420561-48420561 on Build GRCh38
rs945480499 Chr.15: 48420520-48420520 on Build GRCh38
rs772164887 Chr.15: 48420672-48420672 on Build GRCh38
rs775750074 Chr.15: 48420558-48420558 on Build GRCh38
rs112379249 Chr.15: 48420685-48420685 on Build GRCh38
rs112468722 Chr.15: 48420566-48420566 on Build GRCh38
rs727503054 Chr.15: 48420752-48420752 on Build GRCh38
rs745989527 Chr.15: 48420663-48420663 on Build GRCh38
rs112118237 Chr.15: 48420731-48420731 on Build GRCh38
rs112907302 Chr.15: 48420686-48420686 on Build GRCh38
rs397710851 Chr.15: 48420510-48420510 on Build GRCh38
rs76381249 Chr.15: 48420501-48420501 on Build GRCh38
rs363838 Chr.15: 48420679-48420679 on Build GRCh38
rs63373660 Chr.15: 48420503-48420503 on Build GRCh38
rs1033663985 Chr.15: 48420449-48420449 on Build GRCh38
rs61076942 Chr.15: 48420545-48420545 on Build GRCh38
rs768855504 Chr.15: 48420833-48420833 on Build GRCh38
rs764526450 Chr.15: 48420733-48420733 on Build GRCh38
rs138558987 Chr.15: 48420804-48420804 on Build GRCh38
rs1036696763 Chr.15: 48420625-48420625 on Build GRCh38
rs898069992 Chr.15: 48420914-48420914 on Build GRCh38
rs386783832 Chr.15: 48420545-48420547 on Build GRCh38
rs756444027 Chr.15: 48420626-48420627 on Build GRCh38
rs985695052 Chr.15: 48420902-48420902 on Build GRCh38
rs869025416 Chr.15: 48420737-48420737 on Build GRCh38
rs769785603 Chr.15: 48420535-48420535 on Build GRCh38
rs34999503 Chr.15: 48420703-48420704 on Build GRCh38
rs774608125 Chr.15: 48420651-48420651 on Build GRCh38
rs980442260 Chr.15: 48420439-48420439 on Build GRCh38
rs886038975 Chr.15: 48420714-48420714 on Build GRCh38
rs553053319 Chr.15: 48420769-48420769 on Build GRCh38
rs369888822 Chr.15: 48420779-48420779 on Build GRCh38
rs925472002 Chr.15: 48420542-48420542 on Build GRCh38
rs775509707 Chr.15: 48420819-48420819 on Build GRCh38
rs59270599 Chr.15: 48420547-48420547 on Build GRCh38
rs74014542 Chr.15: 48420849-48420849 on Build GRCh38
rs992155203 Chr.15: 48420817-48420817 on Build GRCh38
rs550069748 Chr.15: 48420464-48420464 on Build GRCh38
rs773773625 Chr.15: 48420858-48420858 on Build GRCh38
rs773293790 Chr.15: 48420540-48420540 on Build GRCh38
rs575578375 Chr.15: 48420909-48420909 on Build GRCh38
rs3214528 Chr.15: 48420503-48420503 on Build GRCh38
rs111413134 Chr.15: 48420741-48420741 on Build GRCh38
rs927103213 Chr.15: 48420742-48420742 on Build GRCh38
rs751226629 Chr.15: 48420778-48420778 on Build GRCh38
rs960701330 Chr.15: 48420454-48420454 on Build GRCh38
rs993515585 Chr.15: 48420918-48420918 on Build GRCh38
rs566022232 Chr.15: 48420890-48420890 on Build GRCh38
rs147195031 Chr.15: 48420780-48420780 on Build GRCh38
rs1054064380 Chr.15: 48420463-48420463 on Build GRCh38
rs397515857 Chr.15: 48420722-48420722 on Build GRCh38
rs945685889 Chr.15: 48420514-48420514 on Build GRCh38
rs943699647 Chr.15: 48420590-48420590 on Build GRCh38
rs1041494974 Chr.15: 48420521-48420521 on Build GRCh38
rs972466831 Chr.15: 48420599-48420599 on Build GRCh38
rs368054842 Chr.15: 48420805-48420805 on Build GRCh38
rs886042134 Chr.15: 48420730-48420730 on Build GRCh38
rs747269059 Chr.15: 48420826-48420826 on Build GRCh38
rs398078168 Chr.15: 48420509-48420509 on Build GRCh38
rs760944600 Chr.15: 48420688-48420688 on Build GRCh38
rs962099364 Chr.15: 48420567-48420567 on Build GRCh38
rs913979115 Chr.15: 48420498-48420498 on Build GRCh38
rs765772116 Chr.15: 48420763-48420763 on Build GRCh38
rs765942432 Chr.15: 48420774-48420774 on Build GRCh38
rs756093148 Chr.15: 48420799-48420799 on Build GRCh38
rs762330526 Chr.15: 48420761-48420761 on Build GRCh38
rs1025097229 Chr.15: 48420635-48420635 on Build GRCh38
rs183904185 Chr.15: 48420443-48420443 on Build GRCh38
rs753639266 Chr.15: 48420674-48420674 on Build GRCh38
rs1026793539 Chr.15: 48420740-48420740 on Build GRCh38
rs937227325 Chr.15: 48420453-48420453 on Build GRCh38
rs374951628 Chr.15: 48420757-48420757 on Build GRCh38
rs971180549 Chr.15: 48420678-48420678 on Build GRCh38
rs749912176 Chr.15: 48420767-48420767 on Build GRCh38
rs772261791 Chr.15: 48420815-48420815 on Build GRCh38
rs200361998 Chr.15: 48420843-48420843 on Build GRCh38
rs146651343 Chr.15: 48420548-48420548 on Build GRCh38
rs1036026458 Chr.15: 48420781-48420781 on Build GRCh38
rs886038786 Chr.15: 48420798-48420798 on Build GRCh38
rs111496285 Chr.15: 48420696-48420696 on Build GRCh38
rs762213905 Chr.15: 48420847-48420847 on Build GRCh38
rs2303505 Chr.15: 48420560-48420560 on Build GRCh38
rs748055037 Chr.15: 48420796-48420796 on Build GRCh38
rs794728278 Chr.15: 48420683-48420683 on Build GRCh38
rs771082642 Chr.15: 48420650-48420650 on Build GRCh38
rs192174961 Chr.15: 48420442-48420442 on Build GRCh38
rs536471778 Chr.15: 48420460-48420460 on Build GRCh38
rs111811305 Chr.15: 48420825-48420825 on Build GRCh38

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