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AATGGCAATTCCTATTCCCAAGGCT[A/G]ACGCCACCTTCTTTTTCCACTTTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 190197 MIM: 600697 | ||||||||||||||||||||
Literature Links: |
CNTN2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
CNTN2 - contactin 2 | ||||||
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There are no transcripts associated with this gene. |
RBBP5 - RB binding protein 5, histone lysine methyltransferase complex subunit | ||||||
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There are no transcripts associated with this gene. |
TMEM81 - transmembrane protein 81 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_203376.1 | 817 | Missense Mutation | TCA,TTA | S,L 226 | NP_976310.1 |