Product Details

SNP ID
rs187399397
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:81261788 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCTGTGCCTCTTCATGCTCACAC[C/T]ATTGTTCTGATAGATGATGCCAGTG
Phenotype
MIM: 608467
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
STON2 PubMed Links

Gene Details

Gene
STON2
Gene Name
stonin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256430.1 11804 Missense Mutation ATA,ATG I919M NP_001243359.1
NM_033104.3 11804 UTR 3 NP_149095.2
XM_006720279.1 11804 UTR 3 XP_006720342.1
XM_011537240.1 11804 Missense Mutation ATA,ATG I976M XP_011535542.1
XM_011537241.1 11804 Intron XP_011535543.1
XM_011537242.1 11804 UTR 3 XP_011535544.1

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