Product Details

SNP ID: rs145397072
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:112082695 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTTCTGGTACAAGGAAAGGGAAAC[A/C]ACCACATAAACGCAAGAAAAAATCC
Phenotype: MIM: 602690 MIM: 606659
Polymorphism: A/C, Transversion 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	769	Missense Mutation	CAA,CCA	Q202P	NP_001076438.1
NM_001082970.1	769	Missense Mutation	CAA,CCA	Q201P	NP_001076439.1
NM_001301017.1	769	Missense Mutation	CAA,CCA	Q201P	NP_001287946.1
NM_001301019.1	769	Missense Mutation	CAA,CCA	Q173P	NP_001287948.1
NM_001301021.1	769	Missense Mutation	CAA,CCA	Q172P	NP_001287950.1
NM_018195.3	769	Missense Mutation	CAA,CCA	Q202P	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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