Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 6441980-6442249 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
MCPH1
Entrez Gene ID
79648
Gene Name
microcephalin 1
Gene Aliases
BRIT1, MCT
UniGene
Hs.593807
Gene Chromosome Location
Chr.8: 6406592-6648505 on Build GRCh38
Transcripts
NM_001172574.1 NM_001172575.1 NM_001322042.1 NM_001322043.1 NM_001322045.1 NM_024596.4 NR_136159.1 XM_011534755.2 XM_011534756.2 XM_011534757.2 XM_011534758.2 XM_011534759.2 XM_011534760.2 XM_017013829.1 XM_017013830.1 XM_017013831.1 XM_017013832.1 XM_017013833.1 XM_017013834.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
2720313 c.596A>G p.Q199R Chr.8: 6442082-6442082 on Build GRCh38
5780590 c.642G>C p.L214F Chr.8: 6442128-6442128 on Build GRCh38
4430597 c.621C>G p.N207K Chr.8: 6442107-6442107 on Build GRCh38
7216187 c.647T>C p.I216T Chr.8: 6442133-6442133 on Build GRCh38
1195097 c.659C>T p.T220I Chr.8: 6442145-6442145 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs766546095 Chr.8: 6442107-6442107 on Build GRCh38
rs780599854 Chr.8: 6442086-6442086 on Build GRCh38
rs2922828 Chr.8: 6442120-6442120 on Build GRCh38
rs200071210 Chr.8: 6442102-6442102 on Build GRCh38
rs975741762 Chr.8: 6442107-6442108 on Build GRCh38
rs1027135986 Chr.8: 6442053-6442053 on Build GRCh38
rs369302385 Chr.8: 6442091-6442091 on Build GRCh38
rs761780872 Chr.8: 6442036-6442036 on Build GRCh38
rs587783742 Chr.8: 6442100-6442100 on Build GRCh38
rs376944403 Chr.8: 6442200-6442200 on Build GRCh38
rs778789751 Chr.8: 6442054-6442054 on Build GRCh38
rs771191596 Chr.8: 6442199-6442199 on Build GRCh38
rs372646335 Chr.8: 6442060-6442060 on Build GRCh38
rs757828573 Chr.8: 6442062-6442062 on Build GRCh38
rs367920038 Chr.8: 6442024-6442024 on Build GRCh38
rs747059973 Chr.8: 6442197-6442197 on Build GRCh38
rs375026958 Chr.8: 6442113-6442113 on Build GRCh38
rs41313952 Chr.8: 6442150-6442150 on Build GRCh38
rs769248709 Chr.8: 6442032-6442032 on Build GRCh38
rs376998674 Chr.8: 6442037-6442037 on Build GRCh38
rs371118565 Chr.8: 6442161-6442161 on Build GRCh38
rs1034757682 Chr.8: 6442046-6442046 on Build GRCh38
rs779062888 Chr.8: 6442096-6442096 on Build GRCh38
rs34076411 Chr.8: 6442020-6442021 on Build GRCh38
rs757012933 Chr.8: 6442138-6442138 on Build GRCh38
rs2922827 Chr.8: 6442187-6442187 on Build GRCh38
rs983967995 Chr.8: 6442132-6442132 on Build GRCh38
rs756924757 Chr.8: 6442083-6442083 on Build GRCh38
rs973602232 Chr.8: 6442114-6442114 on Build GRCh38
rs754939585 Chr.8: 6442052-6442052 on Build GRCh38
rs760821534 Chr.8: 6442039-6442039 on Build GRCh38
rs759390345 Chr.8: 6442202-6442202 on Build GRCh38
rs540930467 Chr.8: 6442168-6442168 on Build GRCh38
rs753578908 Chr.8: 6442047-6442047 on Build GRCh38
rs970256800 Chr.8: 6442099-6442099 on Build GRCh38
rs775294583 Chr.8: 6442208-6442208 on Build GRCh38
rs867949424 Chr.8: 6442112-6442112 on Build GRCh38
rs763114241 Chr.8: 6442127-6442127 on Build GRCh38
rs768205573 Chr.8: 6442210-6442210 on Build GRCh38
rs373199125 Chr.8: 6442135-6442135 on Build GRCh38
rs1044679284 Chr.8: 6442014-6442014 on Build GRCh38
rs764943421 Chr.8: 6442205-6442205 on Build GRCh38
rs774707837 Chr.8: 6442093-6442093 on Build GRCh38
rs145639263 Chr.8: 6442094-6442094 on Build GRCh38
rs766173398 Chr.8: 6442041-6442041 on Build GRCh38
rs780025322 Chr.8: 6442185-6442185 on Build GRCh38
rs372509128 Chr.8: 6442026-6442026 on Build GRCh38
rs75741316 Chr.8: 6442133-6442133 on Build GRCh38
rs140161935 Chr.8: 6442038-6442038 on Build GRCh38
rs960389252 Chr.8: 6442064-6442064 on Build GRCh38
rs776972212 Chr.8: 6442027-6442027 on Build GRCh38
rs2053618 Chr.8: 6442011-6442011 on Build GRCh38
rs746642260 Chr.8: 6442080-6442080 on Build GRCh38
rs375833393 Chr.8: 6442075-6442075 on Build GRCh38
rs760907368 Chr.8: 6442103-6442103 on Build GRCh38
rs780973934 Chr.8: 6442139-6442139 on Build GRCh38
rs774533688 Chr.8: 6442033-6442033 on Build GRCh38
rs774614028 Chr.8: 6442157-6442157 on Build GRCh38

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