Product Details

SNP ID

rs141429213

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:102790718 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCACTTACCATCTTTCATGAAAA[C/G]TGCATCAACTTTGTGGCCAATTCCA

Phenotype

MIM: 120353

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MMP1 PubMed Links

Gene Details

Gene

MMP1

Gene Name

matrix metallopeptidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145938.1	1428	Missense Mutation	CTT,GTT	L363V	NP_001139410.1
NM_002421.3	1428	Missense Mutation	CTT,GTT	L429V	NP_002412.1

Gene

WTAPP1

Gene Name

Wilms tumor 1 associated protein pseudogene 1

There are no transcripts associated with this gene.

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