Product Details

SNP ID

rs1804500

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.16:84178965 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CTCAGAAGCCCATTCGAGGCTTCTT[A/C]CGGAGGGGCTGAGAGCTAGAGAGGA

Phenotype

MIM: 613190 MIM: 604905

Polymorphism

A/C, Transversion 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	2843	Intron			NP_001305685.1
NM_178452.5	2843	Intron			NP_848547.4
XM_006721129.2	2843	Intron			XP_006721192.1
XM_011522853.2	2843	Intron			XP_011521155.1
XM_011522854.2	2843	Intron			XP_011521156.1
XM_011522855.2	2843	Intron			XP_011521157.1
XM_011522857.2	2843	Intron			XP_011521159.1
XM_011522858.2	2843	Intron			XP_011521160.1
XM_017022918.1	2843	Intron			XP_016878407.1
XM_017022919.1	2843	Intron			XP_016878408.1
XM_017022920.1	2843	Intron			XP_016878409.1
XM_017022921.1	2843	Intron			XP_016878410.1
XM_017022922.1	2843	Intron			XP_016878411.1

Gene

TAF1C

Gene Name

TATA-box binding protein associated factor, RNA polymerase I subunit C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243156.1	2843	Silent Mutation	CGG,CGT	R836R	NP_001230085.1
NM_001243157.1	2843	Silent Mutation	CGG,CGT	R530R	NP_001230086.1
NM_001243158.1	2843	Silent Mutation	CGG,CGT	R530R	NP_001230087.1
NM_001243159.1	2843	Silent Mutation	CGG,CGT	R453R	NP_001230088.1
NM_001243160.1	2843	Silent Mutation	CGG,CGT	R385R	NP_001230089.1
NM_005679.3	2843	Silent Mutation	CGG,CGT	R862R	NP_005670.3
NM_139353.2	2843	Silent Mutation	CGG,CGT	R768R	NP_647610.2
XM_005256226.3	2843	Silent Mutation	CGG,CGT	R862R	XP_005256283.1
XM_005256227.3	2843	Silent Mutation	CGG,CGT	R795R	XP_005256284.1
XM_006721325.3	2843	Silent Mutation	CGG,CGT	R863R	XP_006721388.1
XM_006721326.3	2843	Silent Mutation	CGG,CGT	R837R	XP_006721389.1
XM_017023845.1	2843	Silent Mutation	CGG,CGT	R836R	XP_016879334.1
XM_017023846.1	2843	Silent Mutation	CGG,CGT	R795R	XP_016879335.1
XM_017023847.1	2843	Silent Mutation	CGG,CGT	R769R	XP_016879336.1
XM_017023848.1	2843	Silent Mutation	CGG,CGT	R530R	XP_016879337.1

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