Product Details

SNP ID

rs201373593

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:71626642 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGGCCCGCGCCCTGGGAAGCCC[C/G]GGAGCCGCCGCAGCCGCAGAGGAAG

Phenotype

MIM: 614094

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MARVELD3 PubMed Links

Gene Details

Gene

MARVELD3

Gene Name

MARVEL domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017967.3	490	Missense Mutation	CCG,CGG	P138R	NP_001017967.2
NM_001271329.1	490	Intron			NP_001258258.1
NM_052858.5	490	Missense Mutation	CCG,CGG	P138R	NP_443090.4
XM_011523449.2	490	Missense Mutation	CCG,CGG	P138R	XP_011521751.1

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