Product Details

SNP ID
rs139493929
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:154295892 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCTGAGGCGAGGGCTGAGTTCCC[A/G]GAGGAGGCCAGACCTGACAGGGGCA
Phenotype
MIM: 300092 MIM: 300044
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
TEX28 PubMed Links

Gene Details

Gene
TEX28
Gene Name
testis expressed 28
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001205201.1 219 Intron NP_001192130.1
NM_001586.2 219 Intron NP_001577.1
XM_011531116.1 219 Intron XP_011529418.1
XM_011531117.1 219 Intron XP_011529419.1
XM_011531118.2 219 Intron XP_011529420.1
Gene
TKTL1
Gene Name
transketolase like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145933.1 219 Silent Mutation CCA,CCG P11P NP_001139405.1
NM_001145934.1 219 Intron NP_001139406.1
NM_012253.3 219 Silent Mutation CCA,CCG P11P NP_036385.3

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