Product Details

SNP ID

rs73303121

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:74020064 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGTAATTCATGCTCAATACAGAA[A/G]GTTTGGGAAACATGGGAAGTACCAA

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		Intron			NP_079333.2
XM_005268092.3		Intron			XP_005268149.1
XM_005268097.3		Intron			XP_005268154.1
XM_005268098.4		Intron			XP_005268155.1
XM_011537170.2		Intron			XP_011535472.1
XM_011537171.2		Intron			XP_011535473.1
XM_011537172.1		Intron			XP_011535474.1
XM_011537174.2		Intron			XP_011535476.1
XM_011537175.2		Intron			XP_011535477.1
XM_011537176.2		Intron			XP_011535478.1
XM_011537177.2		Intron			XP_011535479.1
XM_011537178.2		Intron			XP_011535480.1
XM_011537179.2		Intron			XP_011535481.1
XM_017021659.1		Intron			XP_016877148.1
XM_017021660.1		Intron			XP_016877149.1
XM_017021661.1		Intron			XP_016877150.1
XM_017021662.1		Intron			XP_016877151.1
XM_017021663.1		Intron			XP_016877152.1

Gene

ENTPD5

Gene Name

ectonucleoside triphosphate diphosphohydrolase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001249.3		Intron			NP_001240.1
NM_001321984.1		Intron			NP_001308913.1
NM_001321985.1		Intron			NP_001308914.1
NM_001321986.1		Intron			NP_001308915.1
NM_001321987.1		Intron			NP_001308916.1
NM_001321988.1		Intron			NP_001308917.1
XM_005268224.3		Intron			XP_005268281.1
XM_006720325.3		Intron			XP_006720388.1
XM_006720326.2		Intron			XP_006720389.1
XM_017021813.1		Intron			XP_016877302.1
XM_017021814.1		Intron			XP_016877303.1
XM_017021815.1		Intron			XP_016877304.1
XM_017021816.1		Intron			XP_016877305.1
XM_017021817.1		Intron			XP_016877306.1

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