Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 237338852-237339081 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
COL6A3
Entrez Gene ID
1293
Gene Name
collagen type VI alpha 3 chain
Gene Aliases
BTHLM1, DYT27, UCMD1
UniGene
Hs.233240
Gene Chromosome Location
Chr.2: 237324012-237434822 on Build GRCh38
Transcripts
NM_004369.3 NM_057166.4 NM_057167.3 XM_005246065.1 XM_005246066.1 XM_006712253.1 XM_011510574.1 XM_017003303.1 XM_017003304.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6510766 c.8559C>T p.H2853H Chr.2: 237339023-237339023 on Build GRCh38
3051254 c.8545G>T p.V2849L Chr.2: 237339037-237339037 on Build GRCh38
4803808 c.8566G>T p.V2856L Chr.2: 237339016-237339016 on Build GRCh38
6032202 c.8513G>T p.W2838L Chr.2: 237339069-237339069 on Build GRCh38
3426248 c.8539A>G p.N2847D Chr.2: 237339043-237339043 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs963874339 Chr.2: 237338955-237338955 on Build GRCh38
rs111928478 Chr.2: 237338941-237338941 on Build GRCh38
rs926044279 Chr.2: 237339033-237339033 on Build GRCh38
rs770827908 Chr.2: 237338995-237338995 on Build GRCh38
rs756595743 Chr.2: 237339055-237339055 on Build GRCh38
rs539332029 Chr.2: 237339041-237339041 on Build GRCh38
rs548139624 Chr.2: 237338896-237338896 on Build GRCh38
rs775077024 Chr.2: 237339029-237339029 on Build GRCh38
rs369941690 Chr.2: 237338978-237338978 on Build GRCh38
rs957024546 Chr.2: 237339034-237339034 on Build GRCh38
rs764722931 Chr.2: 237339008-237339008 on Build GRCh38
rs757366616 Chr.2: 237338940-237338940 on Build GRCh38
rs865787565 Chr.2: 237339035-237339035 on Build GRCh38
rs770928645 Chr.2: 237338887-237338887 on Build GRCh38
rs776484924 Chr.2: 237338997-237338997 on Build GRCh38
rs776144262 Chr.2: 237339012-237339013 on Build GRCh38
rs750781676 Chr.2: 237339052-237339052 on Build GRCh38
rs976938119 Chr.2: 237338973-237338973 on Build GRCh38
rs766894733 Chr.2: 237339056-237339056 on Build GRCh38
rs375142788 Chr.2: 237338975-237338975 on Build GRCh38
rs533759303 Chr.2: 237338913-237338913 on Build GRCh38
rs373359691 Chr.2: 237338979-237338979 on Build GRCh38
rs547239998 Chr.2: 237338952-237338952 on Build GRCh38
rs759076232 Chr.2: 237339003-237339003 on Build GRCh38
rs755069150 Chr.2: 237338969-237338969 on Build GRCh38
rs369032069 Chr.2: 237339051-237339051 on Build GRCh38
rs779190032 Chr.2: 237338970-237338970 on Build GRCh38
rs375006792 Chr.2: 237338980-237338980 on Build GRCh38

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