Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCAGATATTTACAGTTCAAATAAAG[A/G]TCTTCCCCCTGAAACACCTGGAGCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600571 | ||||||||||||||||||||
Literature Links: |
REST 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 |
REST - RE1 silencing transcription factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001193508.1 | 724 | Missense Mutation | GAT,GGT | D,G 139 | NP_001180437.1 | |
NM_005612.4 | 724 | Missense Mutation | GAT,GGT | D,G 139 | NP_005603.3 | |
XM_011534401.2 | 724 | Missense Mutation | GAT,GGT | D,G 139 | XP_011532703.1 | |
XM_017008527.1 | 724 | Missense Mutation | GAT,GGT | D,G 139 | XP_016864016.1 |