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CCTGGCGCGGTTCCTGTCCAGCTTA[A/G]AGGAGTGAGCCACCTGGCTGCGCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612121 | ||||||||||||||||||||
Literature Links: |
C6orf222 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 |
C6orf222 - chromosome 6 open reading frame 222 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001010903.4 | 1457 | Missense Mutation | TCT,TTT | S,F 590 | NP_001010903.3 | |
XM_011514596.2 | 1457 | Missense Mutation | TCT,TTT | S,F 590 | XP_011512898.1 | |
XM_011514597.2 | 1457 | Missense Mutation | TCT,TTT | S,F 589 | XP_011512899.1 | |
XM_011514598.2 | 1457 | Missense Mutation | TCT,TTT | S,F 342 | XP_011512900.1 |
PNPLA1 - patatin like phospholipase domain containing 1 | ||||||
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There are no transcripts associated with this gene. |