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ACAATCCCAAGATTCTTTCTACTTC[C/T]TTCTCTGTTGCTTCTTGATGAGATT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 612987 | ||||||||||||||||||||
Literature Links: |
NSMCE4A 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 |
NSMCE4A - NSE4 homolog A, SMC5-SMC6 complex component | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001167865.1 | 858 | Silent Mutation | AAA,AAG | K,K 265 | NP_001161337.1 | |
NM_017615.2 | 858 | Silent Mutation | AAA,AAG | K,K 265 | NP_060085.2 | |
XM_005269929.4 | 858 | Silent Mutation | AAA,AAG | K,K 106 | XP_005269986.1 | |
XM_005269930.3 | 858 | Silent Mutation | AAA,AAG | K,K 106 | XP_005269987.1 | |
XM_011539910.2 | 858 | Silent Mutation | AAA,AAG | K,K 106 | XP_011538212.1 | |
XM_017016359.1 | 858 | Silent Mutation | AAA,AAG | K,K 106 | XP_016871848.1 |