Product Details

SNP ID
rs146500812
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:55990072 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTACTACAGGGGTGCCCAAGCTGCA[A/G]TCGTGGTTTACGACATTACTAATCA
Phenotype
MIM: 179514 MIM: 606887
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RAB5B PubMed Links

Gene Details

Gene
RAB5B
Gene Name
RAB5B, member RAS oncogene family
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001252036.1 510 Missense Mutation ATC,GTC I97V NP_001238965.1
NM_001252037.1 510 Missense Mutation ATC,GTC I97V NP_001238966.1
NM_002868.3 510 Missense Mutation ATC,GTC I97V NP_002859.1
XM_005269051.2 510 Missense Mutation ATC,GTC I97V XP_005269108.1
XM_005269052.2 510 Missense Mutation ATC,GTC I97V XP_005269109.1
Gene
SUOX
Gene Name
sulfite oxidase
There are no transcripts associated with this gene.

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