Product Details

SNP ID
rs142273044
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:179588960 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCTTTCTCTCTAAATTTTCCTTC[C/T]GTGCTTTGATGCGGGCTCGTTTCTC
Phenotype
MIM: 604958 MIM: 611852
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ACTL6A PubMed Links

Gene Details

Gene
ACTL6A
Gene Name
actin like 6A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004301.4 541 Intron NP_004292.1
NM_177989.3 541 Intron NP_817126.1
NM_178042.3 541 Intron NP_829888.1
Gene
MRPL47
Gene Name
mitochondrial ribosomal protein L47
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020409.2 541 Missense Mutation NP_065142.2
NM_177988.1 541 Missense Mutation NP_817125.1

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