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AGCCAATTGGATGGTCACCTGGCCG[C/T]GGTCACCCTCAAAGGCCCAGCAATT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613942 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SUN5 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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SUN5 - Sad1 and UNC84 domain containing 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_080675.3 | 866 | Missense Mutation | CAC,CGC | H,R 258 | NP_542406.2 | |
XM_011528573.1 | 866 | Missense Mutation | CAC,CGC | H,R 281 | XP_011526875.1 | |
XM_011528574.1 | 866 | Missense Mutation | CAC,CGC | H,R 233 | XP_011526876.1 | |
XM_011528575.1 | 866 | Missense Mutation | CAC,CGC | H,R 168 | XP_011526877.1 | |
XM_011528576.1 | 866 | Intron | XP_011526878.1 |