Product Details

SNP ID: rs140579749
Assay Type: Functionally tested
NCBI dbSNP Submissions: 9
Location: Chr.1:19597059 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CGGGTGGGGAACATGTCTGAGTCGG[A/C]GCTCGGCAGGAAGTGGGACCGGTGT
Phenotype: MIM: 616574
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: LOC105378614 PubMed Links

Gene Details

Gene: LOC105378614
Gene Name: uncharacterized LOC105378614

There are no transcripts associated with this gene.

Gene: MINOS1
Gene Name: mitochondrial inner membrane organizing system 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001032363.3	83	Missense Mutation	GAG,GCG	E5A	NP_001027535.1
NM_001204082.1	83	Missense Mutation	GAG,GCG	E5A	NP_001191011.1
NM_001204083.1	83	Missense Mutation	GAG,GCG	E5A	NP_001191012.1

Gene: MINOS1-NBL1
Gene Name: MINOS1-NBL1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204088.1	83	UTR 5			NP_001191017.1
NM_001204089.1	83	UTR 5			NP_001191018.1

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