Product Details

SNP ID

rs200024338

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43828194 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTGCAGAAGGATTATACCTCCAA[A/G]GATGAAAAACACATCTTCCAAGGCA

Phenotype

MIM: 600215

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MFAP1 PubMed Links

Gene Details

Gene

MFAP1

Gene Name

microfibrillar associated protein 1

There are no transcripts associated with this gene.

Gene

WDR76

Gene Name

WD repeat domain 76

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167941.1	299	Missense Mutation	AAG,AGG	K33R	NP_001161413.1
NM_024908.3	299	Missense Mutation	AAG,AGG	K97R	NP_079184.2
XM_005254680.3	299	Missense Mutation	AAG,AGG	K33R	XP_005254737.1

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