Product Details

SNP ID
rs199583130
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:5864351 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACATACAGACCTTGGAGATGAGC[A/G]GCTGGCGGCAGCAGAGGCACACGAG
Phenotype
MIM: 607215
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MIR4689 PubMed Links

Gene Details

Gene
MIR4689
Gene Name
microRNA 4689
There are no transcripts associated with this gene.

Gene
NPHP4
Gene Name
nephronophthisis 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291593.1 3288 Missense Mutation NP_001278522.1
NM_001291594.1 3288 Missense Mutation NP_001278523.1
NM_015102.4 3288 Missense Mutation NP_055917.1
XM_006710563.3 3288 Missense Mutation XP_006710626.1
XM_011541213.1 3288 Missense Mutation XP_011539515.1
XM_011541214.1 3288 Missense Mutation XP_011539516.1
XM_011541215.1 3288 Missense Mutation XP_011539517.1
XM_011541216.2 3288 Missense Mutation XP_011539518.1
XM_011541217.2 3288 Missense Mutation XP_011539519.1
XM_011541218.2 3288 Missense Mutation XP_011539520.1
XM_017000996.1 3288 Missense Mutation XP_016856485.1
XM_017000997.1 3288 Missense Mutation XP_016856486.1
XM_017000998.1 3288 Intron XP_016856487.1
XM_017000999.1 3288 Missense Mutation XP_016856488.1
XM_017001000.1 3288 Missense Mutation XP_016856489.1
XM_017001001.1 3288 Missense Mutation XP_016856490.1
XM_017001002.1 3288 Intron XP_016856491.1
XM_017001003.1 3288 Missense Mutation XP_016856492.1

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