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GGAACATCATGTAGGGCGCGTGCGC[A/G]GCCAGGTGCGGATGCAGGTGGTGGT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 602504 | |||||||||||||||||||||||
Literature Links: |
SHOX2 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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 |
SHOX2 - short stature homeobox 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001163678.1 | 628 | Silent Mutation | GCC,GCT | A,A 257 | NP_001157150.1 | |
NM_003030.4 | 628 | Silent Mutation | GCC,GCT | A,A 293 | NP_003021.3 | |
NM_006884.3 | 628 | Silent Mutation | GCC,GCT | A,A 269 | NP_006875.2 | |
XM_006713727.3 | 628 | Silent Mutation | GCC,GCT | A,A 281 | XP_006713790.1 | |
XM_006713728.3 | 628 | Silent Mutation | GCC,GCT | A,A 128 | XP_006713791.1 | |
XM_017007053.1 | 628 | Silent Mutation | GCC,GCT | A,A 142 | XP_016862542.1 | |
XM_017007054.1 | 628 | Silent Mutation | GCC,GCT | A,A 142 | XP_016862543.1 | |
XM_017007055.1 | 628 | Silent Mutation | GCC,GCT | A,A 128 | XP_016862544.1 |