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AAAAAAACAGTGAGAGTTACCCGGT[A/T]TCTGCTTGATGTTCCCACTTTCTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607754 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MKRN1 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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MKRN1 - makorin ring finger protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145125.1 | 1245 | Intron | NP_001138597.1 | |||
NM_001291663.1 | 1245 | Intron | NP_001278592.1 | |||
NM_013446.3 | 1245 | Missense Mutation | CAC,TAC | H,Y 411 | NP_038474.2 | |
XM_011515996.1 | 1245 | Missense Mutation | CAC,TAC | H,Y 368 | XP_011514298.1 | |
XM_011515997.2 | 1245 | Missense Mutation | CAC,TAC | H,Y 347 | XP_011514299.1 | |
XM_011515998.1 | 1245 | Intron | XP_011514300.1 |