Product Details

SNP ID
rs200020734
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:37613721 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCTCACCCTCAGGACACGGCACT[C/T]TCCTCACTGTGCACCTCCGGGTCTC
Phenotype
MIM: 609595
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RSPO1 PubMed Links

Gene Details

Gene
RSPO1
Gene Name
R-spondin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001038633.3 1500 Missense Mutation AAA,AGA K203R NP_001033722.1
NM_001242908.1 1500 Missense Mutation AAA,AGA K203R NP_001229837.1
NM_001242909.1 1500 Missense Mutation AAA,AGA K176R NP_001229838.1
NM_001242910.1 1500 Intron NP_001229839.1
XM_006710583.3 1500 Missense Mutation AAA,AGA K203R XP_006710646.1

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