Product Details

SNP ID

rs116558850

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43813058 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTCCATGCCTCATATTCCTCCTC[A/C]TCATTTTCATCATCAGTATTGAGTG

Phenotype

MIM: 600215

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

MFAP1 PubMed Links

Gene Details

Gene

MFAP1

Gene Name

microfibrillar associated protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005926.2	1000	Missense Mutation	GAG,GAT	E272D	NP_005917.2

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