Product Details

SNP ID: rs201341963
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:139345570 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCAAGCTGCCACCTATCTCTGCCTC[C/T]TGCGTAGCATCCGGAAACATGTGGC
Phenotype: MIM: 613056
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: C7orf55-LUC7L2 PubMed Links

Gene Details

Gene: C7orf55-LUC7L2
Gene Name: C7orf55-LUC7L2 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001244584.2	461	Silent Mutation	CTG,TTG	L70L	NP_001231513.1

Gene: FMC1
Gene Name: formation of mitochondrial complex V assembly factor 1 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_197964.4	461	Silent Mutation	CTG,TTG	L70L	NP_932068.2

Gene: LUC7L2
Gene Name: LUC7 like 2, pre-mRNA splicing factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001244585.1	461	Intron			NP_001231514.1
NM_001270643.1	461	Intron			NP_001257572.1
NM_016019.4	461	Intron			NP_057103.2

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