Product Details

SNP ID
rs199822938
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:150583371 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAAGCGGAGCATGTCTCTCTGGGT[C/G]GAGTTCATCACGGCGTCGGGCTATC
Phenotype
MIM: 606453 MIM: 604357
Polymorphism
C/G, Transversion 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 1447 Intron NP_001186211.2
NM_006726.4 1447 Intron NP_006717.2
XM_005263372.3 1447 Intron XP_005263429.1
XM_005263373.2 1447 Intron XP_005263430.1
XM_005263374.3 1447 Intron XP_005263431.1
XM_005263375.3 1447 Intron XP_005263432.1
XM_011532434.2 1447 Intron XP_011530736.1
XM_017008872.1 1447 Intron XP_016864361.1
XM_017008873.1 1447 Intron XP_016864362.1
XM_017008874.1 1447 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 1447 Silent Mutation GTC,GTG V114V NP_006430.1

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