Product Details

SNP ID
rs200638032
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:101277617 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTACTAAAGTACCTGACGAGGTA[A/T]GACCCTGCTTGTGGCTGCTCATTCC
Phenotype
MIM: 300314
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
TAF7L PubMed Links

Gene Details

Gene
TAF7L
Gene Name
TATA-box binding protein associated factor 7 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001168474.1 796 Missense Mutation CAT,CTT H227L NP_001161946.1
NM_024885.3 796 Missense Mutation CAT,CTT H313L NP_079161.3
XM_005262152.1 796 Missense Mutation CAT,CTT H227L XP_005262209.1
XM_006724664.1 796 Missense Mutation CAT,CTT H313L XP_006724727.1

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