Product Details

SNP ID
rs11550950
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:2588558 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTACCCACTCCTGACAGGCCAAGGC[C/T]GTTGGCATCCAGGGGAACTTGTCTG
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FAM213B PubMed Links

Gene Details

Gene
FAM213B
Gene Name
family with sequence similarity 213 member B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195736.1 529 Silent Mutation GCC,GCT A179A NP_001182665.1
NM_001195737.1 529 Missense Mutation CCG,CTG P168L NP_001182666.1
NM_001195738.1 529 Silent Mutation GCC,GCT A161A NP_001182667.1
NM_001195740.1 529 Intron NP_001182669.1
NM_001195741.1 529 Intron NP_001182670.1
NM_152371.3 529 Silent Mutation GCC,GCT A161A NP_689584.2
XM_006710354.3 529 Missense Mutation CCG,CTG P168L XP_006710417.1
XM_011540664.1 529 Missense Mutation CCG,CTG P186L XP_011538966.1
XM_011540665.1 529 Missense Mutation CCG,CTG P186L XP_011538967.1
XM_011540666.1 529 Silent Mutation GCC,GCT A179A XP_011538968.1
Gene
LOC100996583
Gene Name
uncharacterized LOC100996583
There are no transcripts associated with this gene.

Gene
MMEL1
Gene Name
membrane metallo-endopeptidase-like 1
There are no transcripts associated with this gene.

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