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AATCTTGATTCTTGCTCTATGGTCG[C/G]TACTTGCACAGGAAGTGTTGGCGCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 609846 | ||||||||||||||||||||
Literature Links: |
REG4 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 |
REG4 - regenerating family member 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001159352.1 | 734 | Nonsense Mutation | TAC,TAG | Y,* 156 | NP_001152824.1 | |
NM_001159353.1 | 734 | Intron | NP_001152825.1 | |||
NM_032044.3 | 734 | Nonsense Mutation | TAC,TAG | Y,* 156 | NP_114433.1 |