Product Details

SNP ID

rs147374258

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:132583009 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCCCACGGCCTGGCGGGGCATCCG[A/G]CCCAGGTTTGGACTCCCACCTGCAG

Phenotype

MIM: 605211 MIM: 616533

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BARHL1 PubMed Links

Gene Details

Gene

BARHL1

Gene Name

BarH like homeobox 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020064.3	404	Missense Mutation	GAC,GGC	D71G	NP_064448.1

Gene

CFAP77

Gene Name

cilia and flagella associated protein 77

There are no transcripts associated with this gene.

Gene

DDX31

Gene Name

DEAD-box helicase 31

There are no transcripts associated with this gene.

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