Product Details

SNP ID
rs142166417
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:154295984 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTCCATCAGGGCCACATGCTCCA[C/T]GAGCTCCGGGTAAGTTCTCCTCATT
Phenotype
MIM: 300092 MIM: 300044
Polymorphism
C/T, 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_001205201.1 311 Intron NP_001192130.1
NM_001586.2 311 Intron NP_001577.1
XM_011531116.1 311 Intron XP_011529418.1
XM_011531117.1 311 Intron XP_011529419.1
XM_011531118.2 311 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_001145933.1 311 Missense Mutation ACG,ATG T42M NP_001139405.1
NM_001145934.1 311 Intron NP_001139406.1
NM_012253.3 311 Missense Mutation ACG,ATG T42M NP_036385.3

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