Product Details

SNP ID
rs141147759
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:2589024 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGGCATCTCTGCGGAGGTCTGTG[C/T]CAGCGACCCGCCTCAGGTGAGCTGG
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_001195736.1 667 Missense Mutation GCC,GTC A236V NP_001182665.1
NM_001195737.1 667 Missense Mutation GCC,GTC A214V NP_001182666.1
NM_001195738.1 667 Silent Mutation TGC,TGT C207C NP_001182667.1
NM_001195740.1 667 Missense Mutation GCC,GTC A182V NP_001182669.1
NM_001195741.1 667 Missense Mutation GCC,GTC A181V NP_001182670.1
NM_152371.3 667 Missense Mutation GCC,GTC A218V NP_689584.2
XM_006710354.3 667 Missense Mutation CCA,TCA P225S XP_006710417.1
XM_011540664.1 667 Missense Mutation CCA,TCA P243S XP_011538966.1
XM_011540665.1 667 Missense Mutation GCC,GTC A232V XP_011538967.1
XM_011540666.1 667 Silent Mutation TGC,TGT C225C 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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