Product Details

SNP ID
rs199735368
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:38596381 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCGTGTGGAAGAGCACCGACTTCC[C/T]CGGCCGCCCGGGGCTCACGCCGATG
Phenotype
MIM: 601983 MIM: 180901
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LOC105372397 PubMed Links

Gene Details

Gene
LOC105372397
Gene Name
uncharacterized LOC105372397
There are no transcripts associated with this gene.

Gene
MAP4K1
Gene Name
mitogen-activated protein kinase kinase kinase kinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042600.2 2187 Missense Mutation AGG,GGG R683G NP_001036065.1
NM_007181.5 2187 Missense Mutation AGG,GGG R683G NP_009112.1
XM_011526403.1 2187 Missense Mutation AGG,GGG R723G XP_011524705.1
XM_011526404.1 2187 Missense Mutation AGG,GGG R723G XP_011524706.1
XM_017026231.1 2187 Missense Mutation AGG,GGG R710G XP_016881720.1
Gene
RYR1
Gene Name
ryanodine receptor 1
There are no transcripts associated with this gene.

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