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GCACAAAACAGCTTCTGCTAGCAAA[C/T]GTGTCCTGCCAGACACGTGGAGAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609840 | ||||||||||||||||||||
Literature Links: |
SLC24A4 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 |
SLC24A4 - solute carrier family 24 member 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_153646.3 | 253 | Missense Mutation | CGT,TGT | R,C 53 | NP_705932.2 | |
NM_153647.3 | 253 | Missense Mutation | CGT,TGT | R,C 53 | NP_705933.2 | |
NM_153648.3 | 253 | UTR 5 | NP_705934.1 | |||
XM_005267342.2 | 253 | Intron | XP_005267399.1 | |||
XM_011536436.2 | 253 | Missense Mutation | CGT,TGT | R,C 100 | XP_011534738.1 | |
XM_011536437.2 | 253 | Missense Mutation | CGT,TGT | R,C 100 | XP_011534739.1 | |
XM_011536438.2 | 253 | Missense Mutation | CGT,TGT | R,C 100 | XP_011534740.1 | |
XM_011536439.2 | 253 | Missense Mutation | CGT,TGT | R,C 100 | XP_011534741.1 | |
XM_011536440.2 | 253 | Intron | XP_011534742.1 | |||
XM_011536441.2 | 253 | Intron | XP_011534743.1 | |||
XM_011536442.2 | 253 | Intron | XP_011534744.1 |