Product Details

SNP ID

rs193069859

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:84145550 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGACCACGGGAGCGCAGGCCGAG[A/G]GGGCTGCAAGGAAGGTGCCGACTGC

Phenotype

MIM: 613190

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DNAAF1 PubMed Links

Gene Details

Gene

DNAAF1

Gene Name

dynein axonemal assembly factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318756.1	291	Intron			NP_001305685.1
NM_178452.5	291	Missense Mutation	GAG,GGG	E37G	NP_848547.4
XM_006721129.2	291	Missense Mutation	GAG,GGG	E37G	XP_006721192.1
XM_011522853.2	291	Missense Mutation	GAG,GGG	E37G	XP_011521155.1
XM_011522854.2	291	Missense Mutation	GAG,GGG	E37G	XP_011521156.1
XM_011522855.2	291	Missense Mutation	GAG,GGG	E37G	XP_011521157.1
XM_011522857.2	291	Missense Mutation	GAG,GGG	E37G	XP_011521159.1
XM_011522858.2	291	Missense Mutation	GAG,GGG	E37G	XP_011521160.1
XM_017022918.1	291	Missense Mutation	GAG,GGG	E37G	XP_016878407.1
XM_017022919.1	291	UTR 5			XP_016878408.1
XM_017022920.1	291	Intron			XP_016878409.1
XM_017022921.1	291	Intron			XP_016878410.1
XM_017022922.1	291	Intron			XP_016878411.1

Gene

HSDL1

Gene Name

hydroxysteroid dehydrogenase like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146051.1	291	Intron			NP_001139523.1
NM_031463.4	291	Intron			NP_113651.4
XM_005256189.2	291	Intron			XP_005256246.1

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