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TGGGGCCCCTTGTGAAGCTGCTGCC[A/G]CATCTCTTCCATTCGCTGCTTCCGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604421 | ||||||||||||||||||||
Literature Links: |
PDCL PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
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 |
PDCL - phosducin like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005388.4 | 412 | Missense Mutation | CGG,TGG | R,W 149 | NP_005379.3 | |
XM_017014785.1 | 412 | Missense Mutation | CGG,TGG | R,W 84 | XP_016870274.1 |