Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 110125463-110125868 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
NPHP1
Entrez Gene ID
4867
Gene Name
nephrocystin 1
Gene Aliases
JBTS4, NPH1, SLSN1
UniGene
Hs.280388
Gene Chromosome Location
Chr.2: 110123336-110205062 on Build GRCh38
Transcripts
NM_000272.3 NM_001128178.1 NM_001128179.1 NM_207181.2 XM_005263676.1 XM_005263677.1 XM_005263678.2 XM_005263679.1 XM_006712551.1 XM_011511244.1 XM_017004218.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5635778 c.1902A>C p.K634N Chr.2: 110125664-110125664 on Build GRCh38
1217697 c.1889C>T p.S630L Chr.2: 110125677-110125677 on Build GRCh38
359498 c.1890G>C p.S630S Chr.2: 110125676-110125676 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs772657933 Chr.2: 110125678-110125678 on Build GRCh38
rs184898296 Chr.2: 110125762-110125762 on Build GRCh38
rs936475050 Chr.2: 110125542-110125542 on Build GRCh38
rs749086843 Chr.2: 110125665-110125665 on Build GRCh38
rs745966160 Chr.2: 110125568-110125568 on Build GRCh38
rs764393095 Chr.2: 110125617-110125617 on Build GRCh38
rs544719496 Chr.2: 110125612-110125612 on Build GRCh38
rs1049970841 Chr.2: 110125751-110125751 on Build GRCh38
rs977796926 Chr.2: 110125706-110125706 on Build GRCh38
rs764481084 Chr.2: 110125727-110125727 on Build GRCh38
rs1016157655 Chr.2: 110125813-110125813 on Build GRCh38
rs41295841 Chr.2: 110125689-110125689 on Build GRCh38
rs375788803 Chr.2: 110125592-110125592 on Build GRCh38
rs936295758 Chr.2: 110125800-110125800 on Build GRCh38
rs932892118 Chr.2: 110125742-110125742 on Build GRCh38
rs373875908 Chr.2: 110125688-110125688 on Build GRCh38
rs372552107 Chr.2: 110125590-110125590 on Build GRCh38
rs923693923 Chr.2: 110125707-110125707 on Build GRCh38
rs765538062 Chr.2: 110125591-110125591 on Build GRCh38
rs138181219 Chr.2: 110125677-110125677 on Build GRCh38
rs781356271 Chr.2: 110125648-110125648 on Build GRCh38
rs370205671 Chr.2: 110125682-110125682 on Build GRCh38
rs750343090 Chr.2: 110125652-110125652 on Build GRCh38
rs1005759842 Chr.2: 110125789-110125789 on Build GRCh38
rs913692756 Chr.2: 110125620-110125620 on Build GRCh38
rs192094216 Chr.2: 110125779-110125779 on Build GRCh38
rs897264809 Chr.2: 110125819-110125819 on Build GRCh38
rs201030203 Chr.2: 110125632-110125632 on Build GRCh38
rs779746002 Chr.2: 110125664-110125664 on Build GRCh38
rs758592709 Chr.2: 110125607-110125607 on Build GRCh38
rs778531895 Chr.2: 110125676-110125676 on Build GRCh38
rs529816484 Chr.2: 110125656-110125656 on Build GRCh38
rs766936427 Chr.2: 110125581-110125581 on Build GRCh38
rs757410501 Chr.2: 110125643-110125643 on Build GRCh38
rs989265271 Chr.2: 110125579-110125579 on Build GRCh38
rs768355265 Chr.2: 110125666-110125666 on Build GRCh38
rs763367405 Chr.2: 110125716-110125716 on Build GRCh38

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