Product Details

SNP ID
hCV86499319
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:22830188 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGATCTGTTTTTCTCCACACAGG[A/C]AGGGACTGGCTGCCAACCCCTCCGG
Phenotype
MIM: 600754 MIM: 611856
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MMP14 PubMed Links

Gene Details

Gene
MMP14
Gene Name
matrix metallopeptidase 14
There are no transcripts associated with this gene.

Gene
MRPL52
Gene Name
mitochondrial ribosomal protein L52
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318870.1 121 Missense Mutation AAG,CAG K30Q NP_001305799.1
NM_178336.2 121 Missense Mutation AAG,CAG K31Q NP_848026.1
NM_180982.2 121 Missense Mutation AAG,CAG K30Q NP_851313.1
NM_181304.2 121 UTR 5 NP_851821.1
NM_181305.2 121 UTR 5 NP_851822.1
NM_181306.2 121 UTR 5 NP_851823.1
NM_181307.2 121 Missense Mutation AAG,CAG K31Q NP_851824.1

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