Product Details

SNP ID
rs148988402
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:2588565 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTGACAGGCCAAGGCTGTTGGC[A/G]TCCAGGGGAACTTGTCTGGGGACCT
Phenotype
Polymorphism
A/G, 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_001195736.1 536 Missense Mutation ATC,GTC I182V NP_001182665.1
NM_001195737.1 536 Silent Mutation GCA,GCG A170A NP_001182666.1
NM_001195738.1 536 Missense Mutation ATC,GTC I164V NP_001182667.1
NM_001195740.1 536 Intron NP_001182669.1
NM_001195741.1 536 Intron NP_001182670.1
NM_152371.3 536 Missense Mutation ATC,GTC I164V NP_689584.2
XM_006710354.3 536 Silent Mutation GCA,GCG A170A XP_006710417.1
XM_011540664.1 536 Silent Mutation GCA,GCG A188A XP_011538966.1
XM_011540665.1 536 Silent Mutation GCA,GCG A188A XP_011538967.1
XM_011540666.1 536 Missense Mutation ATC,GTC I182V 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.

View Full Product Details