Product Details

SNP ID

rs200810979

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:90714636 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGTACTTCTGCCGCTCAAAGCTA[C/T]GCTCCAGTTGATTGAGCTGGTGGTC

Phenotype

MIM: 605212

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BARHL2 PubMed Links

Gene Details

Gene

BARHL2

Gene Name

BarH like homeobox 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020063.1	788	Missense Mutation	CAT,CGT	H249R	NP_064447.1

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