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SNP ID: rs147719473
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.4:150583929 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACGAGTCGTGCCTGGGCGACCGGCT[C/T]AACGGCATCCTGCTGCAGCTCATCT
Phenotype: MIM: 606453 MIM: 604357
Polymorphism: C/T, 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	2005	Intron			NP_001186211.2
NM_006726.4	2005	Intron			NP_006717.2
XM_005263372.3	2005	Intron			XP_005263429.1
XM_005263373.2	2005	Intron			XP_005263430.1
XM_005263374.3	2005	Intron			XP_005263431.1
XM_005263375.3	2005	Intron			XP_005263432.1
XM_011532434.2	2005	Intron			XP_011530736.1
XM_017008872.1	2005	Intron			XP_016864361.1
XM_017008873.1	2005	Intron			XP_016864362.1
XM_017008874.1	2005	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	2005	Silent Mutation	CTC,CTT	L300L	NP_006430.1

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