Product Details

Primer Sequences
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Primer Chromosome Location
Chr.19: 50667852-50668101 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
SHANK1
Entrez Gene ID
50944
Gene Name
SH3 and multiple ankyrin repeat domains 1
Gene Aliases
SPANK-1, SSTRIP, synamon
UniGene
Hs.274255
Gene Chromosome Location
Chr.19: 50659257-50719779 on Build GRCh38
Transcripts
NM_016148.3 XM_006723233.3 XM_011527013.2 XM_011527014.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6414134 c.2089T>C p.Y697H Chr.19: 50668032-50668032 on Build GRCh38
5640436 c.3870G>C p.E1290D Chr.19: 50668090-50668090 on Build GRCh38
3757073 c.2190C>T p.T730T Chr.19: 50667931-50667931 on Build GRCh38
6777474 c.4104C>T p.R1368R Chr.19: 50667880-50667880 on Build GRCh38
5965029 c.3877T>C p.F1293L Chr.19: 50668083-50668083 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs991945241 Chr.19: 50668067-50668067 on Build GRCh38
rs773698573 Chr.19: 50667929-50667929 on Build GRCh38
rs939077275 Chr.19: 50668049-50668049 on Build GRCh38
rs767525128 Chr.19: 50667951-50667951 on Build GRCh38
rs760338050 Chr.19: 50667916-50667916 on Build GRCh38
rs1021833524 Chr.19: 50668036-50668036 on Build GRCh38
rs567830516 Chr.19: 50667971-50667971 on Build GRCh38
rs752917726 Chr.19: 50667959-50667959 on Build GRCh38
rs750578 Chr.19: 50667931-50667931 on Build GRCh38
rs978172273 Chr.19: 50668039-50668039 on Build GRCh38
rs1027712825 Chr.19: 50667938-50667938 on Build GRCh38
rs756321329 Chr.19: 50667968-50667968 on Build GRCh38
rs983599321 Chr.19: 50667986-50667986 on Build GRCh38
rs990327575 Chr.19: 50668030-50668030 on Build GRCh38
rs770350735 Chr.19: 50667921-50667921 on Build GRCh38
rs753550210 Chr.19: 50668011-50668011 on Build GRCh38
rs534920931 Chr.19: 50668013-50668013 on Build GRCh38
rs763564024 Chr.19: 50667930-50667930 on Build GRCh38
rs866873686 Chr.19: 50667875-50667875 on Build GRCh38
rs571652063 Chr.19: 50668047-50668047 on Build GRCh38
rs908075733 Chr.19: 50667995-50667995 on Build GRCh38
rs997634632 Chr.19: 50667983-50667983 on Build GRCh38
rs1027975822 Chr.19: 50667994-50667994 on Build GRCh38
rs1049016489 Chr.19: 50667877-50667877 on Build GRCh38
rs953580010 Chr.19: 50668016-50668016 on Build GRCh38
rs967714850 Chr.19: 50668037-50668037 on Build GRCh38
rs1017733936 Chr.19: 50668033-50668044 on Build GRCh38
rs759555490 Chr.19: 50667932-50667932 on Build GRCh38
rs901911775 Chr.19: 50667976-50667976 on Build GRCh38
rs771488648 Chr.19: 50668069-50668069 on Build GRCh38
rs778741132 Chr.19: 50668032-50668032 on Build GRCh38
rs779706581 Chr.19: 50668082-50668082 on Build GRCh38
rs1005312231 Chr.19: 50667953-50667953 on Build GRCh38
rs775297497 Chr.19: 50667906-50667906 on Build GRCh38
rs547041696 Chr.19: 50668042-50668042 on Build GRCh38
rs1012165028 Chr.19: 50667872-50667872 on Build GRCh38

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