Product Details

SNP ID
rs149268336
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:223975889 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCAGGGTTTGTTTATCTGCCCC[A/G]TGAATAACACAGCACCTACAGAATT
Phenotype
MIM: 611849 MIM: 177010
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MRPL44 PubMed Links

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 1233 Missense Mutation ACG,ATG T391M NP_001130000.1
NM_001136530.1 1233 Missense Mutation ACG,ATG T403M NP_001130002.1
NM_006216.3 1233 Missense Mutation ACG,ATG T392M NP_006207.1
XM_005246641.2 1233 Missense Mutation ACG,ATG T404M XP_005246698.1
XM_017004329.1 1233 Missense Mutation ACG,ATG T392M XP_016859818.1
XM_017004330.1 1233 Missense Mutation ACG,ATG T392M XP_016859819.1
XM_017004331.1 1233 Missense Mutation ACG,ATG T391M XP_016859820.1
XM_017004332.1 1233 Missense Mutation ACG,ATG T391M XP_016859821.1

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