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GAGGTCCAGGCAGATGCCCCGGCCC[A/G]GAACCACCCTGGCCTCGGTGGGCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
10 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 |
---|---|---|
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 |
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 | 1956 | Missense Mutation | CCG,CTG | P,L 484 | NP_149093.1 | |
XM_005245556.3 | 1956 | Missense Mutation | CCG,CTG | P,L 484 | XP_005245613.1 | |
XM_005245557.4 | 1956 | Missense Mutation | CCG,CTG | P,L 484 | XP_005245614.1 | |
XM_005245560.2 | 1956 | Intron | XP_005245617.1 | |||
XM_017002638.1 | 1956 | Missense Mutation | CCG,CTG | P,L 484 | XP_016858127.1 |