Product Details

SNP ID

rs73113102

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:69419673 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTTTTCAGAGGGAAGAAAAAGGA[A/C]CCCGAATGGGATAAGCCGGTGTCTG

Phenotype

MIM: 610572 MIM: 603139

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

MARVELD2 PubMed Links

Gene Details

Gene

MARVELD2

Gene Name

MARVEL domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001038603.2	450	Missense Mutation	GAA,GAC	E96D	NP_001033692.2
NM_001244734.1	450	Missense Mutation	GAA,GAC	E96D	NP_001231663.1
XM_005248445.4	450	Missense Mutation	GAA,GAC	E96D	XP_005248502.1
XM_005248446.4	450	Missense Mutation	GAA,GAC	E96D	XP_005248503.1
XM_005248447.4	450	Missense Mutation	GAA,GAC	E96D	XP_005248504.1

Gene

RAD17

Gene Name

RAD17 checkpoint clamp loader component

There are no transcripts associated with this gene.

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