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TCTTACCGAAAACTGGGTGGCGAAG[C/T]ATCTCGTGCTCGTGTGGGGGCTGTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 605226 | ||||||||||||||||||||
Literature Links: |
RERE 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 |
RERE - arginine-glutamic acid dipeptide repeats | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042681.1 | 5017 | Missense Mutation | ATA,ATG | I,M 1489 | NP_001036146.1 | |
NM_001042682.1 | 5017 | Missense Mutation | ATA,ATG | I,M 935 | NP_001036147.1 | |
NM_012102.3 | 5017 | Missense Mutation | ATA,ATG | I,M 1489 | NP_036234.3 | |
XM_005263464.2 | 5017 | Missense Mutation | ATA,ATG | I,M 1489 | XP_005263521.1 | |
XM_005263466.1 | 5017 | Missense Mutation | ATA,ATG | I,M 1221 | XP_005263523.1 | |
XM_011541510.1 | 5017 | Missense Mutation | ATA,ATG | I,M 1447 | XP_011539812.1 | |
XM_011541511.1 | 5017 | Intron | XP_011539813.1 | |||
XM_017001358.1 | 5017 | Missense Mutation | ATA,ATG | I,M 1489 | XP_016856847.1 | |
XM_017001359.1 | 5017 | Missense Mutation | ATA,ATG | I,M 1489 | XP_016856848.1 |