Product Details

SNP ID
rs2230613
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:55234855 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGTCTACTCTTCATCTTGTGTTG[A/C]GACTTCGTGGTGGTGCTAAGAAAAG
Phenotype
MIM: 603766 MIM: 191343
Polymorphism
A/C, 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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005369.1 437 Intron NP_001005369.1
NM_001321001.1 437 Intron NP_001307930.1
NM_001321002.1 437 Intron NP_001307931.1
NM_001321003.1 437 Intron NP_001307932.1
NM_001321004.1 437 Intron NP_001307933.1
NM_001321005.1 437 Intron NP_001307934.1
NM_002453.2 437 Intron NP_002444.2
XM_005264335.3 437 Intron XP_005264392.1
XM_011532871.2 437 Intron XP_011531173.1
XM_017004162.1 437 Intron XP_016859651.1
XM_017004163.1 437 Intron XP_016859652.1
XM_017004164.1 437 Intron XP_016859653.1
XM_017004165.1 437 Intron XP_016859654.1
XM_017004166.1 437 Intron XP_016859655.1
XM_017004167.1 437 Intron XP_016859656.1
Gene
RPS27A
Gene Name
ribosomal protein S27a
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135592.2 437 Silent Mutation AGA,CGA R72R NP_001129064.1
NM_001177413.1 437 Silent Mutation AGA,CGA R72R NP_001170884.1
NM_002954.5 437 Silent Mutation AGA,CGA R72R NP_002945.1

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