Product Details

SNP ID

rs145113690

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:132583052 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTGCAGCCCGGGCAGCTCTCAGC[C/G]CCGGCCCAGTCGCGCACCGTCACCT

Phenotype

MIM: 605211 MIM: 616533

Polymorphism

C/G, Transversion 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	447	Silent Mutation	GCC,GCG	A85A	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.

View Full Product Details