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GACCCCCGCCCCCGACTGGGCATCT[A/G]TGCTGGCGTGCTCCCTCCGGACAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604480 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RINL 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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RINL - Ras and Rab interactor like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001195833.1 | 1242 | Intron | NP_001182762.1 | |||
NM_198445.3 | 1242 | Intron | NP_940847.1 | |||
XM_006723015.2 | 1242 | Intron | XP_006723078.1 | |||
XM_006723016.2 | 1242 | Intron | XP_006723079.1 | |||
XM_011526454.2 | 1242 | Intron | XP_011524756.1 | |||
XM_011526455.2 | 1242 | Intron | XP_011524757.1 |
SIRT2 - sirtuin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001193286.1 | 1242 | UTR 3 | NP_001180215.1 | |||
NM_012237.3 | 1242 | Missense Mutation | ACA,ATA | T,I 352 | NP_036369.2 | |
NM_030593.2 | 1242 | Missense Mutation | ACA,ATA | T,I 315 | NP_085096.1 | |
XM_006723111.1 | 1242 | Missense Mutation | ACA,ATA | T,I 315 | XP_006723174.1 | |
XM_011526654.1 | 1242 | Missense Mutation | ACA,ATA | T,I 315 | XP_011524956.1 | |
XM_011526655.1 | 1242 | Missense Mutation | ACA,ATA | T,I 282 | XP_011524957.1 | |
XM_017026500.1 | 1242 | Missense Mutation | ACA,ATA | T,I 229 | XP_016881989.1 |