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ATTGCTTGCCGGGCAGATTTTTCCA[C/T]TTGGATGTAATAAAACTCACGAAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615094 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PROX2 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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PROX2 - prospero homeobox 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080408.2 | 2561 | Missense Mutation | ATG,GTG | M,V 268 | NP_001073877.2 | |
NM_001243007.1 | 2561 | Missense Mutation | ATG,GTG | M,V 495 | NP_001229936.1 | |
XM_005267543.3 | 2561 | Missense Mutation | ATG,GTG | M,V 495 | XP_005267600.1 | |
XM_017021222.1 | 2561 | Intron | XP_016876711.1 |