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TGCATCCAAATGTGACAAAGGGAAG[C/T]GAAGTCCATGAAACTGAAAGGATAA
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 612049 | |||||||||||||||||||||||
Literature Links: |
CRYBG3 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
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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 |
CRYBG3 - crystallin beta-gamma domain containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_153605.3 | 1363 | Intron | NP_705833.3 | |||
XM_005247117.4 | 1363 | Intron | XP_005247174.1 |
MINA - MYC induced nuclear antigen | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042533.2 | 1363 | Missense Mutation | CAC,CGC | H,R 418 | NP_001035998.1 | |
NM_001261829.1 | 1363 | Missense Mutation | CAC,CGC | H,R 417 | NP_001248758.1 | |
NM_032778.5 | 1363 | Missense Mutation | CAC,CGC | H,R 417 | NP_116167.3 | |
NM_153182.3 | 1363 | Missense Mutation | CAC,CGC | H,R 418 | NP_694822.2 | |
XM_005247838.4 | 1363 | Missense Mutation | CAC,CGC | H,R 418 | XP_005247895.1 | |
XM_011513244.2 | 1363 | Missense Mutation | CAC,CGC | H,R 187 | XP_011511546.1 |