Product Details

SNP ID
rs139813980
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:150583486 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTATCGGGATGTGGTCAAGATGATC[A/G]CGGACACCAGCGAGGTCAAGTTGCG
Phenotype
MIM: 606453 MIM: 604357
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
LOC729558 PubMed Links

Gene Details

Gene
LOC729558
Gene Name
uncharacterized LOC729558
There are no transcripts associated with this gene.

Gene
LRBA
Gene Name
LPS responsive beige-like anchor protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199282.2 1562 Intron NP_001186211.2
NM_006726.4 1562 Intron NP_006717.2
XM_005263372.3 1562 Intron XP_005263429.1
XM_005263373.2 1562 Intron XP_005263430.1
XM_005263374.3 1562 Intron XP_005263431.1
XM_005263375.3 1562 Intron XP_005263432.1
XM_011532434.2 1562 Intron XP_011530736.1
XM_017008872.1 1562 Intron XP_016864361.1
XM_017008873.1 1562 Intron XP_016864362.1
XM_017008874.1 1562 Intron XP_016864363.1
Gene
MAB21L2
Gene Name
mab-21 like 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006439.4 1562 Missense Mutation ACG,GCG T153A NP_006430.1

View Full Product Details