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TCCAACACAATTATTTCCCAGCCTG[C/T]TGGGCCTGCCGACGAAGGAGCACGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601191 MIM: 615132 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ERH 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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ERH - enhancer of rudimentary homolog (Drosophila) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004450.2 | 371 | Silent Mutation | CAA,CAG | Q,Q 100 | NP_004441.1 |
GALNT16 - polypeptide N-acetylgalactosaminyltransferase 16 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001168368.1 | 371 | Intron | NP_001161840.1 | |||
NM_020692.2 | 371 | Intron | NP_065743.2 | |||
XM_011537005.1 | 371 | Intron | XP_011535307.1 | |||
XM_011537006.2 | 371 | Intron | XP_011535308.1 | |||
XM_011537007.2 | 371 | Intron | XP_011535309.1 | |||
XM_017021498.1 | 371 | Intron | XP_016876987.1 |