Product Details

SNP ID
rs147582494
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:100647258 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGGGAGTCTGAGACCTGCAGCAC[A/G]GAGGCCTGGAAGTCCTGGATCACCT
Phenotype
MIM: 612458 MIM: 604720
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ACTL6B PubMed Links

Gene Details

Gene
ACTL6B
Gene Name
actin like 6B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016188.4 893 Silent Mutation TCC,TCT S262S NP_057272.1
Gene
LOC105375429
Gene Name
uncharacterized LOC105375429
There are no transcripts associated with this gene.

Gene
TFR2
Gene Name
transferrin receptor 2
There are no transcripts associated with this gene.

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