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ACTGAGCGGGCGCCTGGCAGAGGAT[A/G]TGCAGAGGGCTGTGGAGACGGCCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 130660 MIM: 614058 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EMILIN1 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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EMILIN1 - elastin microfibril interfacer 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_007046.3 | 1127 | Missense Mutation | ATG,GTG | M,V 210 | NP_008977.1 |
KHK - ketohexokinase | ||||||
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There are no transcripts associated with this gene. |