Product Details

SNP ID

rs75466425

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:223945568 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCACCCAGGAATAAATTGAGCACC[A/T]GGAGGGGACAAGGAATTGTCCCCCA

Phenotype

MIM: 611849

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

MRPL44 PubMed Links

Gene Details

Gene

MRPL44

Gene Name

mitochondrial ribosomal protein L44

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022915.3		Intron			NP_075066.1
XM_011511668.2		Intron			XP_011509970.1
XM_017004730.1		Intron			XP_016860219.1
XM_017004731.1		Intron			XP_016860220.1

Gene

WDFY1

Gene Name

WD repeat and FYVE domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020830.4		Intron			NP_065881.1

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