Product Details

SNP ID
rs200178563
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:75273571 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAAGCTGGGGGACAGGCCCTTGAA[C/G]AAGCCCAGGGCGCCTTCCTTTTGCA
Phenotype
MIM: 612072 MIM: 611974 MIM: 606521
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
LOC100287042 PubMed Links

Gene Details

Gene
LOC100287042
Gene Name
uncharacterized LOC100287042
There are no transcripts associated with this gene.

Gene
MIF4GD
Gene Name
MIF4G domain containing
There are no transcripts associated with this gene.

Gene
MRPS7
Gene Name
mitochondrial ribosomal protein S7
There are no transcripts associated with this gene.

Gene
SLC25A19
Gene Name
solute carrier family 25 member 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001126121.1 1260 Missense Mutation TTC,TTG F281L NP_001119593.1
NM_001126122.1 1260 Missense Mutation TTC,TTG F281L NP_001119594.1
NM_021734.4 1260 Missense Mutation TTC,TTG F281L NP_068380.3
XM_005257559.3 1260 Missense Mutation TTC,TTG F281L XP_005257616.1
XM_005257560.2 1260 Missense Mutation TTC,TTG F281L XP_005257617.1
XM_005257561.3 1260 Missense Mutation TTC,TTG F281L XP_005257618.1
XM_005257562.2 1260 Missense Mutation TTC,TTG F281L XP_005257619.1
XM_006722007.2 1260 Missense Mutation TTC,TTG F281L XP_006722070.1
XM_011525098.1 1260 Missense Mutation TTC,TTG F176L XP_011523400.1
XM_017024926.1 1260 Missense Mutation TTC,TTG F281L XP_016880415.1
XM_017024927.1 1260 Missense Mutation TTC,TTG F180L XP_016880416.1
XM_017024928.1 1260 Missense Mutation TTC,TTG F176L XP_016880417.1

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