Product Details

SNP ID

rs143459066

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:179368892 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATGAGTTCATTCCCAAAGAAGTT[C/T]TTCTTTCTCTGACCTATGCGGCCAA

Phenotype

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	556	Missense Mutation	CTT,TTT	L64F	NP_653297.3
XM_011509165.1	556	Missense Mutation	CTT,TTT	L64F	XP_011507467.1
XM_011509166.2	556	Missense Mutation	CTT,TTT	L64F	XP_011507468.1
XM_011509167.2	556	Missense Mutation	CTT,TTT	L64F	XP_011507469.1
XM_011509168.1	556	Missense Mutation	CTT,TTT	L64F	XP_011507470.1
XM_011509169.1	556	Missense Mutation	CTT,TTT	L43F	XP_011507471.1
XM_011509170.1	556	Missense Mutation	CTT,TTT	L64F	XP_011507472.1
XM_011509171.1	556	Missense Mutation	CTT,TTT	L22F	XP_011507473.1
XM_011509174.1	556	Missense Mutation	CTT,TTT	L64F	XP_011507476.1
XM_011509175.1	556	Missense Mutation	CTT,TTT	L64F	XP_011507477.1
XM_011509176.1	556	Missense Mutation	CTT,TTT	L64F	XP_011507478.1
XM_011509178.2	556	Missense Mutation	CTT,TTT	L64F	XP_011507480.1
XM_011509179.2	556	Intron			XP_011507481.1
XM_011509180.1	556	Missense Mutation	CTT,TTT	L64F	XP_011507482.1
XM_011509181.2	556	Intron			XP_011507483.1
XM_017000257.1	556	Intron			XP_016855746.1
XM_017000258.1	556	Intron			XP_016855747.1
XM_017000259.1	556	Intron			XP_016855748.1

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