Product Details

SNP ID

rs1080194

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:150268610 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GATGACTCACCATGCAAAAGTCAAC[C/T]AACATATAACATACTACATTAACAG

Phenotype

MIM: 606453

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LRBA PubMed Links

Gene Details

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		Intron			NP_001186211.2
NM_006726.4		Intron			NP_006717.2
XM_005263372.3		Intron			XP_005263429.1
XM_005263373.2		Intron			XP_005263430.1
XM_005263374.3		Intron			XP_005263431.1
XM_005263375.3		Intron			XP_005263432.1
XM_011532434.2		Intron			XP_011530736.1
XM_017008872.1		Intron			XP_016864361.1
XM_017008873.1		Intron			XP_016864362.1
XM_017008874.1		Intron			XP_016864363.1

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