Product Details

SNP ID

rs3818587

Assay Type

Functionally tested

NCBI dbSNP Submissions

58

Location

Chr.1:179551287 on Build GRCh38

Set Membership

HapMap JSNP

Context Sequence [VIC/FAM]

TGCTGGGAGAAGACAGGCAATTCAG[C/T]AGGTCAAATGGCAAAGGTAAAACCA

Phenotype

MIM: 604766

Polymorphism

C/T, 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	971	Intron			NP_653297.3
XM_011509165.1	971	Intron			XP_011507467.1
XM_011509166.2	971	Intron			XP_011507468.1
XM_011509167.2	971	Intron			XP_011507469.1
XM_011509168.1	971	Intron			XP_011507470.1
XM_011509169.1	971	Intron			XP_011507471.1
XM_011509170.1	971	Intron			XP_011507472.1
XM_011509171.1	971	Intron			XP_011507473.1
XM_011509174.1	971	Intron			XP_011507476.1
XM_011509175.1	971	Intron			XP_011507477.1
XM_011509176.1	971	Intron			XP_011507478.1
XM_011509178.2	971	Intron			XP_011507480.1
XM_011509179.2	971	Intron			XP_011507481.1
XM_011509180.1	971	Intron			XP_011507482.1
XM_011509181.2	971	Intron			XP_011507483.1
XM_017000257.1	971	Intron			XP_016855746.1
XM_017000258.1	971	Intron			XP_016855747.1
XM_017000259.1	971	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	971	Silent Mutation	CTA,CTG	L278L	NP_001284504.1
NM_014625.3	971	Silent Mutation	CTA,CTG	L346L	NP_055440.1
XM_005245483.3	971	Silent Mutation	CTA,CTG	L287L	XP_005245540.1
XM_017002298.1	971	Silent Mutation	CTA,CTG	L235L	XP_016857787.1
XM_017002299.1	971	Intron			XP_016857788.1

View Full Product Details