Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs41307258

Hard Link
rs41307258 is a snp on gene TBX22 (T-box 22)

GeneTBX22 Chromosome number X Chromosome position NaN
Alleles T/A (transliterated to +) Minor Allele A Minor Allele Frequency 0.1404
Notation g.127T>A, g.4859T>A Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Promoter region: An important functional role for rs41307258 results in a decreased promoter activity of up to 50%. [PMID: 19648124]
Gene Function
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

NOT REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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