Product Details
- SNP ID
-
rs141623661
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:55237302 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATGTTGCTTACCCTTCCAAATTACA[C/T]GTCCATTACGGGTTAGTTTAAATTT
- Phenotype
-
MIM: 603766
MIM: 191343
- Polymorphism
- C/T, 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
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001005369.1 |
2313 |
Missense Mutation |
CAT,CGT |
H666R |
NP_001005369.1 |
NM_001321001.1 |
2313 |
Missense Mutation |
CAT,CGT |
H666R |
NP_001307930.1 |
NM_001321002.1 |
2313 |
Missense Mutation |
CAT,CGT |
H666R |
NP_001307931.1 |
NM_001321003.1 |
2313 |
Missense Mutation |
CAT,CGT |
H666R |
NP_001307932.1 |
NM_001321004.1 |
2313 |
Missense Mutation |
CAT,CGT |
H666R |
NP_001307933.1 |
NM_001321005.1 |
2313 |
Missense Mutation |
CAT,CGT |
H423R |
NP_001307934.1 |
NM_002453.2 |
2313 |
Missense Mutation |
CAT,CGT |
H666R |
NP_002444.2 |
XM_005264335.3 |
2313 |
Missense Mutation |
CAT,CGT |
H666R |
XP_005264392.1 |
XM_011532871.2 |
2313 |
Missense Mutation |
CAT,CGT |
H666R |
XP_011531173.1 |
XM_017004162.1 |
2313 |
Missense Mutation |
CAT,CGT |
H666R |
XP_016859651.1 |
XM_017004163.1 |
2313 |
Missense Mutation |
CAT,CGT |
H666R |
XP_016859652.1 |
XM_017004164.1 |
2313 |
Missense Mutation |
CAT,CGT |
H607R |
XP_016859653.1 |
XM_017004165.1 |
2313 |
Missense Mutation |
CAT,CGT |
H423R |
XP_016859654.1 |
XM_017004166.1 |
2313 |
Missense Mutation |
CAT,CGT |
H423R |
XP_016859655.1 |
XM_017004167.1 |
2313 |
Missense Mutation |
CAT,CGT |
H335R |
XP_016859656.1 |
- Gene
- RPS27A
- Gene Name
- ribosomal protein S27a
There are no transcripts associated with this gene.
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