Product Details

SNP ID
rs1185246
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.5:69419483 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
GATACCACCATAAGAACCCACCCAA[C/T]TCTTCATGACAGTGAGCGGGCAGTG
Phenotype
MIM: 610572 MIM: 603139
Polymorphism
C/T, Transition 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_001038603.2 260 Missense Mutation ACT,ATT T33I NP_001033692.2
NM_001244734.1 260 Missense Mutation ACT,ATT T33I NP_001231663.1
XM_005248445.4 260 Missense Mutation ACT,ATT T33I XP_005248502.1
XM_005248446.4 260 Missense Mutation ACT,ATT T33I XP_005248503.1
XM_005248447.4 260 Missense Mutation ACT,ATT T33I XP_005248504.1
Gene
RAD17
Gene Name
RAD17 checkpoint clamp loader component
There are no transcripts associated with this gene.

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