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CCACGAAGGGCTCTTTAAGTTTTCT[A/G]GGGCGGGTTTCCCTGATGGTTTGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606778 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SSH1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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SSH1 - slingshot protein phosphatase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001161330.1 | 2994 | Intron | NP_001154802.1 | |||
NM_001161331.1 | 2994 | Intron | NP_001154803.1 | |||
NM_018984.3 | 2994 | Missense Mutation | CCA,CTA | P,L 1037 | NP_061857.3 | |
XM_005268984.4 | 2994 | Missense Mutation | CCA,CTA | P,L 1037 | XP_005269041.1 | |
XM_005268985.2 | 2994 | Missense Mutation | CCA,CTA | P,L 957 | XP_005269042.1 | |
XM_011538497.1 | 2994 | Missense Mutation | CCA,CTA | P,L 1048 | XP_011536799.1 | |
XM_011538499.1 | 2994 | Missense Mutation | CCA,CTA | P,L 981 | XP_011536801.1 | |
XM_011538500.2 | 2994 | Missense Mutation | CCA,CTA | P,L 957 | XP_011536802.1 | |
XM_011538501.2 | 2994 | Missense Mutation | CCA,CTA | P,L 957 | XP_011536803.1 | |
XM_017019491.1 | 2994 | Missense Mutation | CCA,CTA | P,L 1021 | XP_016874980.1 | |
XM_017019492.1 | 2994 | Missense Mutation | CCA,CTA | P,L 911 | XP_016874981.1 | |
XM_017019493.1 | 2994 | Missense Mutation | CCA,CTA | P,L 725 | XP_016874982.1 | |
XM_017019494.1 | 2994 | Missense Mutation | CCA,CTA | P,L 725 | XP_016874983.1 |