Product Details

Primer Sequences

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Primer Chromosome Location

Chr.14: 87945516-87945789 on Build GRCh38 View in UCSC browser

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

GALC

Entrez Gene ID

2581

Gene Name

galactosylceramidase

Gene Aliases

-

UniGene

Hs.513439

Gene Chromosome Location

Chr.14: 87933014-87993665 on Build GRCh38

Transcripts

NM_000153.3 NM_001201401.1 NM_001201402.1 XM_011536618.2

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
7272468	c.1649G>A	p.S550N	Chr.14: 87945574-87945574 on Build GRCh38
6668924	c.1335delT	p.F445fs*52	Chr.14: 87945720-87945720 on Build GRCh38
5552324	c.1630G>A	p.D544N	Chr.14: 87945593-87945593 on Build GRCh38
7272469	c.1571G>A	p.S524N	Chr.14: 87945574-87945574 on Build GRCh38
6668922	c.1466C>T	p.A489V	Chr.14: 87945589-87945589 on Build GRCh38
4873512	c.1514G>A	p.R505H	Chr.14: 87945631-87945631 on Build GRCh38
1371404	c.1551_1552insT	p.T518fs*4	Chr.14: 87945671-87945672 on Build GRCh38
6668927	c.1492G>T	p.D498Y	Chr.14: 87945563-87945563 on Build GRCh38
7369146	c.1339G>T	p.E447*	Chr.14: 87945716-87945716 on Build GRCh38
7187410	c.1502_1503insT	p.S502fs*1	Chr.14: 87945720-87945721 on Build GRCh38
5496256	c.1528C>T	p.Q510*	Chr.14: 87945617-87945617 on Build GRCh38
4686230	c.1425delT	p.F475fs*52	Chr.14: 87945720-87945720 on Build GRCh38
5552325	c.1552G>A	p.D518N	Chr.14: 87945593-87945593 on Build GRCh38
6668919	c.1404C>T	p.G468G	Chr.14: 87945651-87945651 on Build GRCh38
1300867	c.1610G>A	p.R537K	Chr.14: 87945613-87945613 on Build GRCh38
5496255	c.1606C>T	p.Q536*	Chr.14: 87945617-87945617 on Build GRCh38
4414713	c.1560T>G	p.I520M	Chr.14: 87945663-87945663 on Build GRCh38
5350228	c.1501C>T	p.H501Y	Chr.14: 87945644-87945644 on Build GRCh38
5350227	c.1579C>T	p.H527Y	Chr.14: 87945644-87945644 on Build GRCh38
7187411	c.1424_1425insT	p.S476fs*1	Chr.14: 87945720-87945721 on Build GRCh38
6668925	c.1660G>T	p.D554Y	Chr.14: 87945563-87945563 on Build GRCh38
6668921	c.1556C>T	p.A519V	Chr.14: 87945589-87945589 on Build GRCh38
6668918	c.1494C>T	p.G498G	Chr.14: 87945651-87945651 on Build GRCh38
6668926	c.1582G>T	p.D528Y	Chr.14: 87945563-87945563 on Build GRCh38
5178381	c.1473_1474insT	p.T492fs*4	Chr.14: 87945671-87945672 on Build GRCh38
2250042	c.1584C>T	p.F528F	Chr.14: 87945639-87945639 on Build GRCh38
4918420	c.1586C>T	p.T529M	Chr.14: 87945637-87945637 on Build GRCh38
4811553	c.1532G>A	p.R511K	Chr.14: 87945613-87945613 on Build GRCh38
6668920	c.1634C>T	p.A545V	Chr.14: 87945589-87945589 on Build GRCh38
6668917	c.1572C>T	p.G524G	Chr.14: 87945651-87945651 on Build GRCh38
4918421	c.1508C>T	p.T503M	Chr.14: 87945637-87945637 on Build GRCh38
958390	c.1592G>A	p.R531H	Chr.14: 87945631-87945631 on Build GRCh38
4788035	c.1506C>T	p.F502F	Chr.14: 87945639-87945639 on Build GRCh38
7272470	c.1481G>A	p.S494N	Chr.14: 87945574-87945574 on Build GRCh38
7369145	c.1429G>T	p.E477*	Chr.14: 87945716-87945716 on Build GRCh38
7369144	c.1507G>T	p.E503*	Chr.14: 87945716-87945716 on Build GRCh38
4908133	c.1482T>G	p.I494M	Chr.14: 87945663-87945663 on Build GRCh38
7125119	c.1442G>A	p.R481K	Chr.14: 87945613-87945613 on Build GRCh38
7187412	c.1334_1335insT	p.S446fs*1	Chr.14: 87945720-87945721 on Build GRCh38
4686229	c.1503delT	p.F501fs*52	Chr.14: 87945720-87945720 on Build GRCh38
5754638	c.1669T>C	p.W557R	Chr.14: 87945554-87945554 on Build GRCh38
5754639	c.1591T>C	p.W531R	Chr.14: 87945554-87945554 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs772686301	Chr.14: 87945585-87945585 on Build GRCh38
rs749893889	Chr.14: 87945632-87945632 on Build GRCh38
rs941906996	Chr.14: 87945752-87945752 on Build GRCh38
rs774239455	Chr.14: 87945619-87945619 on Build GRCh38
rs794727116	Chr.14: 87945680-87945680 on Build GRCh38
rs200378205	Chr.14: 87945631-87945631 on Build GRCh38
rs387906952	Chr.14: 87945593-87945593 on Build GRCh38
rs886050864	Chr.14: 87945581-87945581 on Build GRCh38
rs771079019	Chr.14: 87945596-87945596 on Build GRCh38
rs911390493	Chr.14: 87945547-87945547 on Build GRCh38
rs557464603	Chr.14: 87945604-87945604 on Build GRCh38
rs9672064	Chr.14: 87945591-87945591 on Build GRCh38
rs774001462	Chr.14: 87945713-87945713 on Build GRCh38
rs758827171	Chr.14: 87945657-87945657 on Build GRCh38
rs746062460	Chr.14: 87945690-87945690 on Build GRCh38
rs747006038	Chr.14: 87945670-87945670 on Build GRCh38
rs771025782	Chr.14: 87945678-87945678 on Build GRCh38
rs753164684	Chr.14: 87945651-87945651 on Build GRCh38
rs201055535	Chr.14: 87945594-87945594 on Build GRCh38
rs778349065	Chr.14: 87945661-87945661 on Build GRCh38
rs756543855	Chr.14: 87945602-87945603 on Build GRCh38
rs749597090	Chr.14: 87945552-87945552 on Build GRCh38
rs375867319	Chr.14: 87945682-87945682 on Build GRCh38
rs748573754	Chr.14: 87945566-87945566 on Build GRCh38
rs766016339	Chr.14: 87945758-87945758 on Build GRCh38
rs367327	Chr.14: 87945603-87945603 on Build GRCh38
rs967173797	Chr.14: 87945759-87945759 on Build GRCh38
rs761731174	Chr.14: 87945718-87945718 on Build GRCh38
rs776857280	Chr.14: 87945599-87945599 on Build GRCh38
rs779511828	Chr.14: 87945562-87945562 on Build GRCh38
rs753565491	Chr.14: 87945639-87945639 on Build GRCh38
rs755353417	Chr.14: 87945648-87945648 on Build GRCh38
rs760213309	Chr.14: 87945755-87945755 on Build GRCh38
rs770047605	Chr.14: 87945702-87945702 on Build GRCh38
rs370952794	Chr.14: 87945656-87945656 on Build GRCh38
rs771834033	Chr.14: 87945737-87945737 on Build GRCh38
rs200960659	Chr.14: 87945637-87945637 on Build GRCh38
rs146286491	Chr.14: 87945650-87945650 on Build GRCh38
rs751786254	Chr.14: 87945686-87945686 on Build GRCh38
rs755406507	Chr.14: 87945561-87945561 on Build GRCh38
rs761631708	Chr.14: 87945628-87945628 on Build GRCh38
rs558341768	Chr.14: 87945754-87945755 on Build GRCh38
rs773214484	Chr.14: 87945739-87945739 on Build GRCh38
rs752279674	Chr.14: 87945598-87945599 on Build GRCh38
rs1050027845	Chr.14: 87945543-87945543 on Build GRCh38
rs779915053	Chr.14: 87945545-87945545 on Build GRCh38
rs760730368	Chr.14: 87945688-87945688 on Build GRCh38
rs184748969	Chr.14: 87945636-87945636 on Build GRCh38

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