Product Details

SNP ID

rs200673247

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:74023086 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGAAAAAGCAATGTAAAATGGAGA[A/G]AGACATAATGTCAGTATTAAGTTAC

Phenotype

MIM: 603162

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BBOF1 PubMed Links

Gene Details

Gene

BBOF1

Gene Name

basal body orientation factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025057.2	27	Missense Mutation	AAA,AGA	K76R	NP_079333.2
XM_005268092.3	27	Missense Mutation	AAA,AGA	K76R	XP_005268149.1
XM_005268097.3	27	Missense Mutation	AAA,AGA	K76R	XP_005268154.1
XM_005268098.4	27	Intron			XP_005268155.1
XM_011537170.2	27	Missense Mutation	AAA,AGA	K76R	XP_011535472.1
XM_011537171.2	27	Missense Mutation	AAA,AGA	K76R	XP_011535473.1
XM_011537172.1	27	Missense Mutation	AAA,AGA	K76R	XP_011535474.1
XM_011537174.2	27	Missense Mutation	AAA,AGA	K76R	XP_011535476.1
XM_011537175.2	27	Missense Mutation	AAA,AGA	K76R	XP_011535477.1
XM_011537176.2	27	Missense Mutation	AAA,AGA	K3R	XP_011535478.1
XM_011537177.2	27	Intron			XP_011535479.1
XM_011537178.2	27	UTR 5			XP_011535480.1
XM_011537179.2	27	Intron			XP_011535481.1
XM_017021659.1	27	Missense Mutation	AAA,AGA	K76R	XP_016877148.1
XM_017021660.1	27	Intron			XP_016877149.1
XM_017021661.1	27	Intron			XP_016877150.1
XM_017021662.1	27	Intron			XP_016877151.1
XM_017021663.1	27	Missense Mutation	AAA,AGA	K76R	XP_016877152.1

Gene

ENTPD5

Gene Name

ectonucleoside triphosphate diphosphohydrolase 5

There are no transcripts associated with this gene.

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