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AGCACCCGCCTCCTTGCTCTCCTTC[C/G]TGGCCAGGTTCCTGTTGGCATTCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
MIM: 609595 | ||||||||||||||||||||
Literature Links: |
RSPO1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
RSPO1 - R-spondin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001038633.3 | 1578 | Missense Mutation | ACG,AGG | T,R 229 | NP_001033722.1 | |
NM_001242908.1 | 1578 | Missense Mutation | ACG,AGG | T,R 229 | NP_001229837.1 | |
NM_001242909.1 | 1578 | Missense Mutation | ACG,AGG | T,R 202 | NP_001229838.1 | |
NM_001242910.1 | 1578 | Missense Mutation | ACG,AGG | T,R 166 | NP_001229839.1 | |
XM_006710583.3 | 1578 | Missense Mutation | ACG,AGG | T,R 229 | XP_006710646.1 |