Product Details

SNP ID
rs141539487
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:107571212 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGTTACACACCAATGATTGTTGCC[A/G]CTGATTTTGTCAAATCTATAAAAGC
Phenotype
MIM: 606821
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BCAP29 PubMed Links

Gene Details

Gene
BCAP29
Gene Name
B-cell receptor-associated protein 29
There are no transcripts associated with this gene.

Gene
COG5
Gene Name
component of oligomeric golgi complex 5
There are no transcripts associated with this gene.

Gene
DUS4L
Gene Name
dihydrouridine synthase 4 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270419.1 291 Missense Mutation ACT,GCT T62A NP_001257348.1
NM_181581.2 291 Missense Mutation ACT,GCT T62A NP_853559.1
XM_005250125.4 291 Missense Mutation ACT,GCT T62A XP_005250182.1
XM_006715844.2 291 Intron XP_006715907.1
XM_006715845.3 291 Intron XP_006715908.1
XM_011515766.2 291 Missense Mutation ACT,GCT T62A XP_011514068.1
XM_011515767.2 291 Missense Mutation ACT,GCT T62A XP_011514069.1
XM_017011708.1 291 Missense Mutation ACT,GCT T62A XP_016867197.1
XM_017011709.1 291 Missense Mutation ACT,GCT T58A XP_016867198.1
XM_017011710.1 291 Missense Mutation ACT,GCT T58A XP_016867199.1
XM_017011711.1 291 Missense Mutation ACT,GCT T58A XP_016867200.1
XM_017011712.1 291 Missense Mutation ACT,GCT T58A XP_016867201.1
XM_017011713.1 291 Missense Mutation ACT,GCT T58A XP_016867202.1

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