Product Details

SNP ID
rs144948414
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:45265552 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGTCTCCGCAGAACCTGTTGTAC[A/G]TCGTCTTGGGGTCCAACCCCAGGAT
Phenotype
MIM: 610249
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LINC00334 PubMed Links

Gene Details

Gene
LINC00334
Gene Name
long intergenic non-protein coding RNA 334
There are no transcripts associated with this gene.

Gene
POFUT2
Gene Name
protein O-fucosyltransferase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015227.4 1289 UTR 3 NP_056042.1
NM_133635.4 1289 Missense Mutation ACG,ATG T407M NP_598368.2
XM_006723981.3 1289 Missense Mutation ACG,ATG T427M XP_006724044.1
XM_011529504.2 1289 Missense Mutation ACG,ATG T472M XP_011527806.1
XM_011529505.2 1289 Intron XP_011527807.1
XM_011529506.2 1289 Missense Mutation ACG,ATG T452M XP_011527808.1
XM_011529507.2 1289 Missense Mutation ACG,ATG T417M XP_011527809.1
XM_011529508.2 1289 Intron XP_011527810.1
XM_011529509.2 1289 Intron XP_011527811.1
XM_011529510.2 1289 Missense Mutation ACG,ATG T245M XP_011527812.1
XM_011529511.2 1289 Intron XP_011527813.1
XM_011529512.2 1289 Intron XP_011527814.1
XM_011529513.2 1289 Intron XP_011527815.1
XM_017028306.1 1289 Missense Mutation ACG,ATG T397M XP_016883795.1
XM_017028307.1 1289 Intron XP_016883796.1
XM_017028308.1 1289 Intron XP_016883797.1
XM_017028309.1 1289 Missense Mutation ACG,ATG T192M XP_016883798.1

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