Product Details

SNP ID
rs202076847
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:179551277 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGTTCTGTTGCTGGGAGAAGACA[A/G]GCAATTCAGTAGGTCAAATGGCAAA
Phenotype
MIM: 604766
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AXDND1 PubMed Links

Gene Details

Gene
AXDND1
Gene Name
axonemal dynein light chain domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144696.5 981 Intron NP_653297.3
XM_011509165.1 981 Intron XP_011507467.1
XM_011509166.2 981 Intron XP_011507468.1
XM_011509167.2 981 Intron XP_011507469.1
XM_011509168.1 981 Intron XP_011507470.1
XM_011509169.1 981 Intron XP_011507471.1
XM_011509170.1 981 Intron XP_011507472.1
XM_011509171.1 981 Intron XP_011507473.1
XM_011509174.1 981 Intron XP_011507476.1
XM_011509175.1 981 Intron XP_011507477.1
XM_011509176.1 981 Intron XP_011507478.1
XM_011509178.2 981 Intron XP_011507480.1
XM_011509179.2 981 Intron XP_011507481.1
XM_011509180.1 981 Intron XP_011507482.1
XM_011509181.2 981 Intron XP_011507483.1
XM_017000257.1 981 Intron XP_016855746.1
XM_017000258.1 981 Intron XP_016855747.1
XM_017000259.1 981 Intron XP_016855748.1
Gene
NPHS2
Gene Name
NPHS2, podocin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297575.1 981 Silent Mutation CTG,TTG L282L NP_001284504.1
NM_014625.3 981 Silent Mutation CTG,TTG L350L NP_055440.1
XM_005245483.3 981 Silent Mutation CTG,TTG L291L XP_005245540.1
XM_017002298.1 981 Silent Mutation CTG,TTG L239L XP_016857787.1
XM_017002299.1 981 Intron XP_016857788.1

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