Product Details

Primer Sequences
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Primer Chromosome Location
Chr.18: 50238214-50238776 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
CFAP53
Entrez Gene ID
220136
Gene Name
cilia and flagella associated protein 53
Gene Aliases
CCDC11, HTX6
UniGene
Hs.658630
Gene Chromosome Location
Chr.18: 50227193-50266522 on Build GRCh38
Transcripts
NM_145020.4

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
988815 c.1305G>T p.E435D Chr.18: 50238614-50238614 on Build GRCh38
5790695 c.1224A>T p.E408D Chr.18: 50238695-50238695 on Build GRCh38
6621286 c.1219C>T p.R407* Chr.18: 50238700-50238700 on Build GRCh38
4580439 c.1243C>A p.R415S Chr.18: 50238676-50238676 on Build GRCh38
5962104 c.1223A>G p.E408G Chr.18: 50238696-50238696 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs540249165 Chr.18: 50238397-50238397 on Build GRCh38
rs764893815 Chr.18: 50238612-50238612 on Build GRCh38
rs897906607 Chr.18: 50238604-50238604 on Build GRCh38
rs758960052 Chr.18: 50238608-50238608 on Build GRCh38
rs763929280 Chr.18: 50238640-50238640 on Build GRCh38
rs1003679628 Chr.18: 50238509-50238509 on Build GRCh38
rs1029660949 Chr.18: 50238649-50238649 on Build GRCh38
rs761496819 Chr.18: 50238729-50238729 on Build GRCh38
rs1030291977 Chr.18: 50238258-50238258 on Build GRCh38
rs562980903 Chr.18: 50238699-50238699 on Build GRCh38
rs907762342 Chr.18: 50238364-50238364 on Build GRCh38
rs368961887 Chr.18: 50238583-50238583 on Build GRCh38
rs371057232 Chr.18: 50238446-50238446 on Build GRCh38
rs897786132 Chr.18: 50238237-50238237 on Build GRCh38
rs767393451 Chr.18: 50238730-50238730 on Build GRCh38
rs1017832517 Chr.18: 50238284-50238284 on Build GRCh38
rs973330550 Chr.18: 50238744-50238744 on Build GRCh38
rs989764632 Chr.18: 50238236-50238236 on Build GRCh38
rs377709493 Chr.18: 50238676-50238676 on Build GRCh38
rs760319014 Chr.18: 50238573-50238573 on Build GRCh38
rs545023550 Chr.18: 50238253-50238253 on Build GRCh38
rs1022293425 Chr.18: 50238242-50238242 on Build GRCh38
rs200652781 Chr.18: 50238648-50238648 on Build GRCh38
rs774409420 Chr.18: 50238726-50238726 on Build GRCh38
rs144283000 Chr.18: 50238315-50238315 on Build GRCh38
rs1031167776 Chr.18: 50238527-50238527 on Build GRCh38
rs201484442 Chr.18: 50238704-50238704 on Build GRCh38
rs933132917 Chr.18: 50238310-50238310 on Build GRCh38
rs149572151 Chr.18: 50238251-50238251 on Build GRCh38
rs764008012 Chr.18: 50238749-50238751 on Build GRCh38
rs199505634 Chr.18: 50238637-50238637 on Build GRCh38
rs775540452 Chr.18: 50238623-50238623 on Build GRCh38
rs975513124 Chr.18: 50238252-50238252 on Build GRCh38
rs1038059979 Chr.18: 50238401-50238401 on Build GRCh38
rs140867504 Chr.18: 50238532-50238532 on Build GRCh38
rs202154283 Chr.18: 50238709-50238709 on Build GRCh38
rs954598216 Chr.18: 50238265-50238266 on Build GRCh38
rs758227804 Chr.18: 50238572-50238605 on Build GRCh38
rs753975994 Chr.18: 50238737-50238737 on Build GRCh38
rs747330941 Chr.18: 50238698-50238698 on Build GRCh38
rs778047565 Chr.18: 50238693-50238693 on Build GRCh38
rs755027775 Chr.18: 50238670-50238670 on Build GRCh38
rs906299339 Chr.18: 50238486-50238486 on Build GRCh38
rs898812759 Chr.18: 50238402-50238402 on Build GRCh38
rs762923871 Chr.18: 50238710-50238710 on Build GRCh38
rs182358281 Chr.18: 50238259-50238259 on Build GRCh38
rs375725337 Chr.18: 50238580-50238580 on Build GRCh38
rs532029013 Chr.18: 50238714-50238714 on Build GRCh38
rs754147424 Chr.18: 50238665-50238665 on Build GRCh38
rs913645700 Chr.18: 50238395-50238395 on Build GRCh38
rs756289544 Chr.18: 50238645-50238645 on Build GRCh38
rs755223561 Chr.18: 50238741-50238741 on Build GRCh38
rs776128962 Chr.18: 50238700-50238700 on Build GRCh38
rs1007443611 Chr.18: 50238727-50238727 on Build GRCh38
rs922692626 Chr.18: 50238260-50238260 on Build GRCh38
rs966819282 Chr.18: 50238413-50238413 on Build GRCh38
rs989603732 Chr.18: 50238331-50238331 on Build GRCh38
rs964051054 Chr.18: 50238581-50238581 on Build GRCh38
rs748066554 Chr.18: 50238556-50238556 on Build GRCh38
rs947722471 Chr.18: 50238754-50238754 on Build GRCh38
rs758920609 Chr.18: 50238686-50238686 on Build GRCh38
rs1044789857 Chr.18: 50238479-50238479 on Build GRCh38
rs751323164 Chr.18: 50238641-50238641 on Build GRCh38
rs370044468 Chr.18: 50238684-50238684 on Build GRCh38
rs985976081 Chr.18: 50238266-50238266 on Build GRCh38
rs35839946 Chr.18: 50238751-50238751 on Build GRCh38

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