Product Details

SNP ID
rs139226964
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:150402611 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACCCAGCCCAGAAGACGGGTCCT[C/T]CAGTTCCAGTGACTCTGCAAAGGAG
Phenotype
MIM: 142790 MIM: 606847
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CD74 PubMed Links

Gene Details

Gene
CD74
Gene Name
CD74 molecule
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001025158.2 803 Nonsense Mutation TGA,TGG *152W NP_001020329.1
NM_001025159.2 803 Missense Mutation AAG,GAG K278E NP_001020330.1
NM_004355.3 803 Missense Mutation AAG,GAG K214E NP_004346.1
XM_017010089.1 803 Missense Mutation AAG,GAG K278E XP_016865578.1
XM_017010090.1 803 Missense Mutation AAG,GAG K214E XP_016865579.1
Gene
TCOF1
Gene Name
treacle ribosome biogenesis factor 1
There are no transcripts associated with this gene.

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