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CCTGAGCCAGGGGACCACTCAGATC[C/T]GCTGCCTCCCTCTGCACCCTCTCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
14 submissions
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Phenotype: |
MIM: 602758 MIM: 610568 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LOC100507670 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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LOC100507670 - uncharacterized LOC100507670 | ||||||
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There are no transcripts associated with this gene. |
PI4KB - phosphatidylinositol 4-kinase beta | ||||||
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There are no transcripts associated with this gene. |
ZNF687 - zinc finger protein 687 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304763.1 | 829 | Missense Mutation | CCG,CTG | P,L 176 | NP_001291692.1 | |
NM_001304764.1 | 829 | Missense Mutation | CCG,CTG | P,L 176 | NP_001291693.1 | |
NM_020832.2 | 829 | Missense Mutation | CCG,CTG | P,L 176 | NP_065883.1 | |
XM_005245366.3 | 829 | Missense Mutation | CCG,CTG | P,L 185 | XP_005245423.1 | |
XM_011509811.2 | 829 | Missense Mutation | CCG,CTG | P,L 176 | XP_011508113.1 | |
XM_011509812.2 | 829 | Missense Mutation | CCG,CTG | P,L 176 | XP_011508114.1 | |
XM_011509813.2 | 829 | Missense Mutation | CCG,CTG | P,L 176 | XP_011508115.1 |