Product Details

SNP ID
rs201682441
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:35857355 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGAACTCTCCTAGGCCCGTCGCC[A/C]CATTTCCTGCAACAGCCAGAGGACC
Phenotype
MIM: 607762 MIM: 602716
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
KIRREL2 PubMed Links

Gene Details

Gene
KIRREL2
Gene Name
kin of IRRE like 2 (Drosophila)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032123.6 344 Silent Mutation CCA,CCC P24P NP_115499.5
NM_199179.3 344 Intron NP_954648.3
NM_199180.3 344 Silent Mutation CCA,CCC P24P NP_954649.3
XM_011527362.1 344 Silent Mutation CCA,CCC P24P XP_011525664.1
XM_011527363.1 344 Silent Mutation CCA,CCC P24P XP_011525665.1
XM_011527365.1 344 Intron XP_011525667.1
XM_011527366.1 344 Intron XP_011525668.1
XM_017027348.1 344 Silent Mutation CCA,CCC P24P XP_016882837.1
Gene
NPHS1
Gene Name
NPHS1, nephrin
There are no transcripts associated with this gene.

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