Product Details

SNP ID
rs201051636
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:101276495 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCATCATCATCATTGTTACTTCTA[A/G]AATCACTGAACATCTCCCGAAGCAT
Phenotype
MIM: 300314
Polymorphism
A/G, Transition 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_001168474.1 841 Missense Mutation TCT,TTT S242F NP_001161946.1
NM_024885.3 841 Missense Mutation TCT,TTT S328F NP_079161.3
XM_005262152.1 841 Missense Mutation TCT,TTT S243F XP_005262209.1
XM_006724664.1 841 Missense Mutation TCT,TTT S329F XP_006724727.1

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