Product Details

SNP ID

rs4982685

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:22830077 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGTGTCCGGAGGCTGCACTGCAGCG[C/T]AGCCGCTTGGGCGGGCGGCCAGTGG

Phenotype

MIM: 600754 MIM: 611856

Polymorphism

C/T, Transition 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	86	Missense Mutation	GCA,GTA	A18V	NP_001305799.1
NM_178336.2	86	Missense Mutation	GCA,GTA	A19V	NP_848026.1
NM_180982.2	86	Missense Mutation	GCA,GTA	A18V	NP_851313.1
NM_181304.2	86	UTR 5			NP_851821.1
NM_181305.2	86	UTR 5			NP_851822.1
NM_181306.2	86	UTR 5			NP_851823.1
NM_181307.2	86	Missense Mutation	GCA,GTA	A19V	NP_851824.1
XM_005267325.4	86	Missense Mutation	GCA,GTA	A19V	XP_005267382.1
XM_005267328.3	86	UTR 5			XP_005267385.1

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