Product Details

SNP ID

rs4788821

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:71626407 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCGAAGGGACGGGGACCGGGACCCG[A/G]AGAGAGACCAGGAGAGGGACGGGAA

Phenotype

MIM: 614094

Polymorphism

A/G, Transition 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	255	Missense Mutation	AAG,GAG	K60E	NP_001017967.2
NM_001271329.1	255	Missense Mutation	AAG,GAG	K60E	NP_001258258.1
NM_052858.5	255	Missense Mutation	AAG,GAG	K60E	NP_443090.4
XM_011523449.2	255	Missense Mutation	AAG,GAG	K60E	XP_011521751.1

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