Product Details

SNP ID: rs11557879
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:55234130 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTTTTTGTCATTAGGAATTCCTCCT[C/G]ATCAGCAGAGACTGATCTTTGCTGG
Phenotype: MIM: 603766 MIM: 191343
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: CLHC1 PubMed Links

Gene Details

Gene: CLHC1
Gene Name: clathrin heavy chain linker domain containing 1

There are no transcripts associated with this gene.

Gene: MTIF2
Gene Name: mitochondrial translational initiation factor 2

There are no transcripts associated with this gene.

Gene: RPS27A
Gene Name: ribosomal protein S27a

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135592.2	338	Missense Mutation	CAT,GAT	H39D	NP_001129064.1
NM_001177413.1	338	Missense Mutation	CAT,GAT	H39D	NP_001170884.1
NM_002954.5	338	Missense Mutation	CAT,GAT	H39D	NP_002945.1

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