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CTTCCATCTGTTTCTTACTTCCCTT[C/T]GAACCTGCCGCAGGGTATGGATATC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 609207 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MREG PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
|
MREG - melanoregulin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018000.2 | 598 | Missense Mutation | CAA,CGA | Q,R 101 | NP_060470.2 | |
XM_011511468.2 | 598 | Missense Mutation | CAA,CGA | Q,R 151 | XP_011509770.1 | |
XM_017004475.1 | 598 | Intron | XP_016859964.1 |