Product Details

SNP ID

rs2924701

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68904620 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGGAGTTAAGCTGGTGGGTGCGG[A/G]GTAGGGTGGGGAGCCGTCCTGAGAG

Phenotype

MIM: 600502 MIM: 611834

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IGHMBP2 PubMed Links

Gene Details

Gene

IGHMBP2

Gene Name

immunoglobulin mu binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002180.2		Intron			NP_002171.2
XM_005273974.2		Intron			XP_005274031.1
XM_005273975.3		Intron			XP_005274032.1
XM_005273976.1		Intron			XP_005274033.1
XM_011544994.1		Intron			XP_011543296.1
XM_017017669.1		Intron			XP_016873158.1
XM_017017670.1		Intron			XP_016873159.1
XM_017017671.1		Intron			XP_016873160.1

Gene

MRPL21

Gene Name

mitochondrial ribosomal protein L21

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181514.1		Intron			NP_852615.1
NM_181515.1		Intron			NP_852616.1
XM_005273823.4		Intron			XP_005273880.1

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