Product Details

SNP ID
rs199658320
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:737856 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATGCTTTCTTTCAGGCACTGGCTT[G/T]CCCGGGAATATGTGTGGTTTCTGAT
Phenotype
MIM: 611627 MIM: 606969
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
FAM57A PubMed Links

Gene Details

Gene
FAM57A
Gene Name
family with sequence similarity 57 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318006.1 319 Missense Mutation GCC,TCC A73S NP_001304935.1
NM_001318007.1 319 Intron NP_001304936.1
NM_001318008.1 319 Intron NP_001304937.1
NM_024792.2 319 Missense Mutation GCC,TCC A73S NP_079068.1
Gene
GEMIN4
Gene Name
gem nuclear organelle associated protein 4
There are no transcripts associated with this gene.

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