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ATGATGTACAGCGGATTGAGGCCGA[C/T]GGAGCGAGACTGCGGAAAAACAGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608305 | ||||||||||||||||||||
Literature Links: |
SLC13A5 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 |
SLC13A5 - solute carrier family 13 member 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001143838.2 | 1406 | Intron | NP_001137310.1 | |||
NM_001284509.1 | 1406 | Missense Mutation | ATC,GTC | I,V 466 | NP_001271438.1 | |
NM_001284510.1 | 1406 | Missense Mutation | ATC,GTC | I,V 440 | NP_001271439.1 | |
NM_177550.4 | 1406 | Missense Mutation | ATC,GTC | I,V 483 | NP_808218.1 | |
XM_011523795.2 | 1406 | UTR 3 | XP_011522097.1 |