Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 18315720-18315971 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
SMCR8
Entrez Gene ID
140775
Gene Name
Smith-Magenis syndrome chromosome region, candidate 8
Gene Aliases
-
UniGene
Hs.592944
Gene Chromosome Location
Chr.17: 18315280-18328056 on Build GRCh38
Transcripts
NM_144775.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6002809 c.127A>G p.N43D Chr.17: 18315916-18315916 on Build GRCh38
5984514 c.43G>A p.E15K Chr.17: 18315832-18315832 on Build GRCh38
4801290 c.98C>T p.P33L Chr.17: 18315887-18315887 on Build GRCh38
976293 c.147C>T p.S49S Chr.17: 18315936-18315936 on Build GRCh38
5385822 c.52G>A p.E18K Chr.17: 18315841-18315841 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs568762775 Chr.17: 18315928-18315928 on Build GRCh38
rs753368986 Chr.17: 18315916-18315916 on Build GRCh38
rs1028627461 Chr.17: 18315858-18315858 on Build GRCh38
rs769928529 Chr.17: 18315855-18315855 on Build GRCh38
rs763758834 Chr.17: 18315913-18315913 on Build GRCh38
rs1043213098 Chr.17: 18315838-18315838 on Build GRCh38
rs762845860 Chr.17: 18315863-18315863 on Build GRCh38
rs752407085 Chr.17: 18315901-18315901 on Build GRCh38
rs758922116 Chr.17: 18315808-18315808 on Build GRCh38
rs781414587 Chr.17: 18315841-18315841 on Build GRCh38
rs781533018 Chr.17: 18315939-18315939 on Build GRCh38
rs149849406 Chr.17: 18315802-18315802 on Build GRCh38
rs147939354 Chr.17: 18315896-18315896 on Build GRCh38
rs373939146 Chr.17: 18315867-18315867 on Build GRCh38
rs1009600203 Chr.17: 18315880-18315880 on Build GRCh38
rs747367030 Chr.17: 18315819-18315819 on Build GRCh38
rs766147272 Chr.17: 18315755-18315755 on Build GRCh38
rs938635409 Chr.17: 18315744-18315744 on Build GRCh38
rs193128112 Chr.17: 18315765-18315765 on Build GRCh38
rs766941750 Chr.17: 18315927-18315927 on Build GRCh38
rs549336705 Chr.17: 18315759-18315759 on Build GRCh38
rs759154372 Chr.17: 18315763-18315763 on Build GRCh38
rs755350421 Chr.17: 18315938-18315938 on Build GRCh38
rs758870923 Chr.17: 18315920-18315920 on Build GRCh38
rs969412477 Chr.17: 18315934-18315934 on Build GRCh38
rs559511763 Chr.17: 18315740-18315740 on Build GRCh38
rs1000176296 Chr.17: 18315742-18315742 on Build GRCh38
rs752352123 Chr.17: 18315768-18315768 on Build GRCh38
rs774113775 Chr.17: 18315878-18315878 on Build GRCh38
rs768967325 Chr.17: 18315828-18315828 on Build GRCh38
rs143993891 Chr.17: 18315897-18315897 on Build GRCh38
rs750955417 Chr.17: 18315807-18315807 on Build GRCh38
rs773329646 Chr.17: 18315860-18315860 on Build GRCh38
rs747468803 Chr.17: 18315795-18315795 on Build GRCh38
rs770867783 Chr.17: 18315865-18315865 on Build GRCh38
rs780328904 Chr.17: 18315815-18315815 on Build GRCh38
rs1013690039 Chr.17: 18315803-18315803 on Build GRCh38
rs755703164 Chr.17: 18315772-18315772 on Build GRCh38
rs776009230 Chr.17: 18315859-18315859 on Build GRCh38
rs748311558 Chr.17: 18315854-18315854 on Build GRCh38
rs373666029 Chr.17: 18315862-18315862 on Build GRCh38
rs962552351 Chr.17: 18315908-18315908 on Build GRCh38
rs994986178 Chr.17: 18315918-18315918 on Build GRCh38

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