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GTGGGCTCACCCACCACCACACGTA[C/T]GGAGACATCACAGGCAGAGGCCCCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
26 submissions
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Phenotype: |
MIM: 605097 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SLC45A3 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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SLC45A3 - solute carrier family 45 member 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_033102.2 | 1913 | Missense Mutation | ATA,GTA | I,V 470 | NP_149093.1 | |
XM_005245556.3 | 1913 | Missense Mutation | ATA,GTA | I,V 470 | XP_005245613.1 | |
XM_005245557.4 | 1913 | Missense Mutation | ATA,GTA | I,V 470 | XP_005245614.1 | |
XM_005245560.2 | 1913 | Intron | XP_005245617.1 | |||
XM_017002638.1 | 1913 | Missense Mutation | ATA,GTA | I,V 470 | XP_016858127.1 |