Product Details

SNP ID
rs199820082
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:112082001 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACAGATGGGGTCACAGTGGTTAT[A/G]AAGAGTTATACCCTGAAGAATTTGA
Phenotype
MIM: 602690 MIM: 606659
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C11orf57 PubMed Links

Gene Details

Gene
C11orf57
Gene Name
chromosome 11 open reading frame 57
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001082969.1 504 Missense Mutation AAA,GAA K114E NP_001076438.1
NM_001082970.1 504 Missense Mutation AAA,GAA K114E NP_001076439.1
NM_001301017.1 504 Missense Mutation AAA,GAA K114E NP_001287946.1
NM_001301019.1 504 Missense Mutation AAA,GAA K85E NP_001287948.1
NM_001301021.1 504 Missense Mutation AAA,GAA K85E NP_001287950.1
NM_018195.3 504 Missense Mutation AAA,GAA K114E NP_060665.3
Gene
PIH1D2
Gene Name
PIH1 domain containing 2
There are no transcripts associated with this gene.

Gene
SDHD
Gene Name
succinate dehydrogenase complex subunit D
There are no transcripts associated with this gene.

Gene
TIMM8B
Gene Name
translocase of inner mitochondrial membrane 8 homolog B
There are no transcripts associated with this gene.

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