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GTAGAGGCACCAGGCTTGTTCAATC[A/G]AGCAACCAGTTGGTCTTTCATTGTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611124 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MFSD8 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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MFSD8 - major facilitator superfamily domain containing 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152778.2 | 1178 | Missense Mutation | TCG,TTG | S,L 402 | NP_689991.1 | |
XM_005262893.1 | 1178 | Missense Mutation | TCG,TTG | S,L 402 | XP_005262950.1 | |
XM_005262896.1 | 1178 | Missense Mutation | TCG,TTG | S,L 353 | XP_005262953.1 | |
XM_005262897.2 | 1178 | Missense Mutation | TCG,TTG | S,L 335 | XP_005262954.1 | |
XM_005262898.2 | 1178 | UTR 3 | XP_005262955.1 | |||
XM_011531830.1 | 1178 | Missense Mutation | TCG,TTG | S,L 364 | XP_011530132.1 | |
XM_011531831.1 | 1178 | Missense Mutation | TCG,TTG | S,L 297 | XP_011530133.1 | |
XM_011531832.1 | 1178 | UTR 3 | XP_011530134.1 | |||
XM_017007989.1 | 1178 | UTR 3 | XP_016863478.1 |