Product Details

SNP ID

rs12468379

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:223976079 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGTCTATATCTTTGTTGTCTAGCAT[A/G]GTAGCCACTAGTCACATGTGGCCAG

Phenotype

MIM: 611849 MIM: 177010

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

MRPL44 PubMed Links

Additional Information

For this assay, SNP(s) [rs555814415] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

MRPL44

Gene Name

mitochondrial ribosomal protein L44

There are no transcripts associated with this gene.

Gene

SERPINE2

Gene Name

serpin family E member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136528.1		Intron			NP_001130000.1
NM_001136530.1		Intron			NP_001130002.1
NM_006216.3		Intron			NP_006207.1
XM_005246641.2		Intron			XP_005246698.1
XM_017004329.1		Intron			XP_016859818.1
XM_017004330.1		Intron			XP_016859819.1
XM_017004331.1		Intron			XP_016859820.1
XM_017004332.1		Intron			XP_016859821.1

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