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GAAGTGGCCCTGGTAGTCAGGAGTG[C/T]GGCAGAAGCAGTGGTGGCCACTGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
GUCD1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
GUCD1 - guanylyl cyclase domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284251.1 | 814 | Missense Mutation | CAC,CGC | H,R 235 | NP_001271180.1 | |
NM_001284252.1 | 814 | Missense Mutation | CAC,CGC | H,R 235 | NP_001271181.1 | |
NM_001284253.1 | 814 | Missense Mutation | CAC,CGC | H,R 192 | NP_001271182.1 | |
NM_001284254.1 | 814 | Missense Mutation | CAC,CGC | H,R 179 | NP_001271183.1 | |
NM_001284255.1 | 814 | Missense Mutation | CAC,CGC | H,R 136 | NP_001271184.1 | |
NM_001284256.1 | 814 | Intron | NP_001271185.1 | |||
NM_001284257.1 | 814 | Intron | NP_001271186.1 | |||
NM_031444.3 | 814 | Missense Mutation | CAC,CGC | H,R 179 | NP_113632.2 | |
XM_005261761.1 | 814 | Intron | XP_005261818.1 |