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TGGTAGGTCCCCACCACAAAGCCCA[C/T]GAAGCCCAGGATGCTGATCAGGGCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 608331 | ||||||||||||||||||||
Literature Links: |
SLC36A2 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 |
SLC36A2 - solute carrier family 36 member 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_181776.2 | 1395 | Missense Mutation | ATG,GTG | M,V 453 | NP_861441.2 | |
XM_005268377.3 | 1395 | Intron | XP_005268434.1 | |||
XM_006714756.3 | 1395 | Missense Mutation | ATG,GTG | M,V 420 | XP_006714819.1 | |
XM_017009083.1 | 1395 | Intron | XP_016864572.1 | |||
XM_017009084.1 | 1395 | Missense Mutation | ATG,GTG | M,V 255 | XP_016864573.1 |