Product Details

SNP ID
rs200154272
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:38346923 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGGCTGGGACTTCAGCACGCAG[C/T]AGGTACAGTCGCCTGGCCGCAGGGC
Phenotype
MIM: 604049
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
XYLB PubMed Links

Gene Details

Gene
XYLB
Gene Name
xylulokinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005108.3 145 Nonsense Mutation CAG,TAG Q19* NP_005099.2
XM_011534325.2 145 Nonsense Mutation CAG,TAG Q19* XP_011532627.1
XM_011534327.1 145 Nonsense Mutation CAG,TAG Q19* XP_011532629.1
XM_011534328.2 145 Nonsense Mutation CAG,TAG Q19* XP_011532630.1
XM_011534329.1 145 Nonsense Mutation CAG,TAG Q19* XP_011532631.1
XM_011534330.2 145 Nonsense Mutation CAG,TAG Q19* XP_011532632.1
XM_017007595.1 145 UTR 5 XP_016863084.1
XM_017007596.1 145 Intron XP_016863085.1
XM_017007597.1 145 Intron XP_016863086.1
XM_017007598.1 145 Nonsense Mutation CAG,TAG Q19* XP_016863087.1
XM_017007599.1 145 Nonsense Mutation CAG,TAG Q19* XP_016863088.1
XM_017007600.1 145 UTR 5 XP_016863089.1

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