Product Details

Primer Sequences: Log in to view
Primer Chromosome Location: Chr.2: 110147865-110148138 on Build GRCh38 View in UCSC browser
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_006712552.2 XM_011511244.1 XM_017004218.1

Cosmic Detail

Cosmic ID	Mutation	AA	Transcript Location
6308897	c.1420A>G	p.I474V	Chr.2: 110147933-110147933 on Build GRCh38
4769956	c.1358G>A	p.G453D	Chr.2: 110147995-110147995 on Build GRCh38
1217696	c.1372A>G	p.R458G	Chr.2: 110147981-110147981 on Build GRCh38
340612	c.1428_1429TA>TC	p.Y476>?	Chr.2: 110147924-110147925 on Build GRCh38
4958335	c.1398T>C	p.L466L	Chr.2: 110147955-110147955 on Build GRCh38
6856284	c.1417G>A	p.G473R	Chr.2: 110147936-110147936 on Build GRCh38
5535567	c.1418G>A	p.G473E	Chr.2: 110147935-110147935 on Build GRCh38
3565199	c.1433G>A	p.R478H	Chr.2: 110147920-110147920 on Build GRCh38
1005355	c.1432C>T	p.R478C	Chr.2: 110147921-110147921 on Build GRCh38
4707798	c.1424C>A	p.S475Y	Chr.2: 110147929-110147929 on Build GRCh38
5825312	c.1418G>T	p.G473V	Chr.2: 110147935-110147935 on Build GRCh38
1613286	c.1377T>C	p.S459S	Chr.2: 110147976-110147976 on Build GRCh38
6153723	c.1390C>G	p.P464A	Chr.2: 110147963-110147963 on Build GRCh38
354208	c.1360G>T	p.D454Y	Chr.2: 110147993-110147993 on Build GRCh38
2982937	c.1334G>A	p.R445H	Chr.2: 110148019-110148019 on Build GRCh38

SNP Detail

SNP ID	Chromosome Location
rs768169550	Chr.2: 110147913-110147913 on Build GRCh38
rs752979255	Chr.2: 110147979-110147979 on Build GRCh38
rs140979636	Chr.2: 110148019-110148019 on Build GRCh38
rs577560349	Chr.2: 110147933-110147933 on Build GRCh38
rs375907280	Chr.2: 110148020-110148020 on Build GRCh38
rs745657805	Chr.2: 110147894-110147894 on Build GRCh38
rs777196172	Chr.2: 110148078-110148078 on Build GRCh38
rs778443933	Chr.2: 110148053-110148053 on Build GRCh38
rs763221050	Chr.2: 110148003-110148003 on Build GRCh38
rs755943785	Chr.2: 110148023-110148023 on Build GRCh38
rs768263728	Chr.2: 110148049-110148049 on Build GRCh38
rs747679629	Chr.2: 110148057-110148057 on Build GRCh38
rs759936705	Chr.2: 110147954-110147954 on Build GRCh38
rs748969566	Chr.2: 110148034-110148034 on Build GRCh38
rs748875496	Chr.2: 110147908-110147908 on Build GRCh38
rs1509417	Chr.2: 110148087-110148087 on Build GRCh38
rs764303266	Chr.2: 110148012-110148012 on Build GRCh38
rs765450176	Chr.2: 110147956-110147956 on Build GRCh38
rs771404672	Chr.2: 110148058-110148058 on Build GRCh38
rs978534998	Chr.2: 110147998-110147998 on Build GRCh38
rs1030337277	Chr.2: 110147965-110147965 on Build GRCh38
rs945386048	Chr.2: 110148086-110148086 on Build GRCh38
rs13414551	Chr.2: 110147907-110147907 on Build GRCh38
rs771446005	Chr.2: 110147926-110147926 on Build GRCh38
rs745877439	Chr.2: 110148008-110148008 on Build GRCh38
rs990050723	Chr.2: 110148046-110148046 on Build GRCh38
rs373749095	Chr.2: 110148063-110148063 on Build GRCh38
rs773810185	Chr.2: 110147920-110147920 on Build GRCh38
rs761209487	Chr.2: 110147923-110147923 on Build GRCh38
rs913978455	Chr.2: 110148054-110148054 on Build GRCh38
rs974811294	Chr.2: 110147921-110147921 on Build GRCh38
rs954734199	Chr.2: 110147984-110147984 on Build GRCh38
rs779767314	Chr.2: 110148032-110148032 on Build GRCh38
rs958211666	Chr.2: 110147951-110147951 on Build GRCh38
rs769658332	Chr.2: 110148034-110148034 on Build GRCh38
rs35932880	Chr.2: 110148107-110148108 on Build GRCh38

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