Product Details

SNP ID
rs151240721
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:100190879 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACACAAAACTTACCATCATACTA[C/T]TGCCCTGTTCCTCATTTGCCTCATG
Phenotype
MIM: 600664 MIM: 611604
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CHUK PubMed Links

Gene Details

Gene
CHUK
Gene Name
conserved helix-loop-helix ubiquitous kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278.4 2259 Missense Mutation AAT,AGT N733S NP_001269.3
NM_001320928.1 2259 UTR 3 NP_001307857.1
XM_017015611.1 2259 Missense Mutation AAT,AGT N733S XP_016871100.1
XM_017015612.1 2259 Intron XP_016871101.1
XM_017015613.1 2259 Missense Mutation AAT,AGT N329S XP_016871102.1
Gene
ERLIN1
Gene Name
ER lipid raft associated 1
There are no transcripts associated with this gene.

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