Product Details

SNP ID
rs201025077
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:74781615 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATTGTGTAAACTGATCCAGTTGCT[C/T]GGAAGATGCTTCAGACTGCTCCTCT
Phenotype
MIM: 615769 MIM: 612497
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FAM169A PubMed Links

Gene Details

Gene
FAM169A
Gene Name
family with sequence similarity 169 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015566.2 2171 Missense Mutation AAG,GAG K620E NP_056381.1
XM_005248480.2 2171 Missense Mutation AAG,GAG K620E XP_005248537.1
XM_011543306.2 2171 Missense Mutation AAG,GAG K620E XP_011541608.1
XM_011543307.2 2171 Missense Mutation AAG,GAG K620E XP_011541609.1
XM_017009332.1 2171 Missense Mutation AAG,GAG K596E XP_016864821.1
XM_017009333.1 2171 Missense Mutation AAG,GAG K534E XP_016864822.1
Gene
NSA2
Gene Name
NSA2, ribosome biogenesis homolog
There are no transcripts associated with this gene.

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