Product Details

SNP ID

rs199644520

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:69419738 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGATGGAGTGGAGTGTTCACCAC[C/G]AGCCTCTCCAGCAAGACCAAACCAC

Phenotype

MIM: 610572 MIM: 603139

Polymorphism

C/G, 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	515	Missense Mutation	CCA,CGA	P118R	NP_001033692.2
NM_001244734.1	515	Missense Mutation	CCA,CGA	P118R	NP_001231663.1
XM_005248445.4	515	Missense Mutation	CCA,CGA	P118R	XP_005248502.1
XM_005248446.4	515	Missense Mutation	CCA,CGA	P118R	XP_005248503.1
XM_005248447.4	515	Missense Mutation	CCA,CGA	P118R	XP_005248504.1

Gene

RAD17

Gene Name

RAD17 checkpoint clamp loader component

There are no transcripts associated with this gene.

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