Product Details

SNP ID

rs140629236

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:55234165 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTGATCTTTGCTGGCAAGCAGCT[A/G]GAAGATGGACGTACTTTGTCTGACT

Phenotype

MIM: 603766 MIM: 191343

Polymorphism

A/G, Transition 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	373	Silent Mutation	CTA,CTG	L50L	NP_001129064.1
NM_001177413.1	373	Silent Mutation	CTA,CTG	L50L	NP_001170884.1
NM_002954.5	373	Silent Mutation	CTA,CTG	L50L	NP_002945.1

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