Product Details

SNP ID
rs147356870
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:154295882 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTAATGGCGGATGCTGAGGCGAGGG[C/T]TGAGTTCCCGGAGGAGGCCAGACCT
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_001205201.1 209 Intron NP_001192130.1
NM_001586.2 209 Intron NP_001577.1
XM_011531116.1 209 Intron XP_011529418.1
XM_011531117.1 209 Intron XP_011529419.1
XM_011531118.2 209 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_001145933.1 209 Missense Mutation GCT,GTT A8V NP_001139405.1
NM_001145934.1 209 Intron NP_001139406.1
NM_012253.3 209 Missense Mutation GCT,GTT A8V NP_036385.3

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