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SNP ID: rs146043387
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.4:150583389 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCTGGGTCGAGTTCATCACGGCGTC[C/G]GGCTATCTCTCAGCGCGTAAGATCC
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	1465	Intron			NP_001186211.2
NM_006726.4	1465	Intron			NP_006717.2
XM_005263372.3	1465	Intron			XP_005263429.1
XM_005263373.2	1465	Intron			XP_005263430.1
XM_005263374.3	1465	Intron			XP_005263431.1
XM_005263375.3	1465	Intron			XP_005263432.1
XM_011532434.2	1465	Intron			XP_011530736.1
XM_017008872.1	1465	Intron			XP_016864361.1
XM_017008873.1	1465	Intron			XP_016864362.1
XM_017008874.1	1465	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	1465	Silent Mutation	TCC,TCG	S120S	NP_006430.1

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