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ATTTGAGTCATCATCCTCTTCAGCA[C/T]TGCAAATTTCTTCTGGAAGAATGTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611505 MIM: 603479 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CENPP 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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CENPP - centromere protein P | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001012267.2 | 2079 | Intron | NP_001012267.1 | |||
NM_001286969.1 | 2079 | Intron | NP_001273898.1 | |||
NM_001286971.1 | 2079 | Intron | NP_001273900.1 | |||
XM_011518685.2 | 2079 | Intron | XP_011516987.1 | |||
XM_011518689.1 | 2079 | Intron | XP_011516991.1 | |||
XM_017014715.1 | 2079 | Intron | XP_016870204.1 |
ECM2 - extracellular matrix protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001197295.1 | 2079 | Missense Mutation | AAT,AGT | N,S 631 | NP_001184224.1 | |
NM_001197296.1 | 2079 | Intron | NP_001184225.1 | |||
NM_001393.3 | 2079 | Missense Mutation | AAT,AGT | N,S 653 | NP_001384.1 | |
XM_017014376.1 | 2079 | Intron | XP_016869865.1 | |||
XM_017014377.1 | 2079 | Intron | XP_016869866.1 |