Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCATCTTTCATAGAAGGGAGAATT[C/G]CACAAGTTGGCTGATGCCAAGATAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605349 | ||||||||||||||||||||
Literature Links: |
NARF 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 |
NARF - nuclear prelamin A recognition factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001038618.2 | 166 | UTR 5 | NP_001033707.1 | |||
NM_001083608.1 | 166 | Intron | NP_001077077.1 | |||
NM_012336.3 | 166 | Silent Mutation | TTC,TTG | F,L 40 | NP_036468.1 | |
NM_031968.2 | 166 | Silent Mutation | TTC,TTG | F,L 40 | NP_114174.1 | |
XM_005256340.3 | 166 | UTR 5 | XP_005256397.1 | |||
XM_006722278.3 | 166 | Missense Mutation | TTC,TTG | F,L 40 | XP_006722341.1 | |
XM_011523541.2 | 166 | UTR 5 | XP_011521843.1 | |||
XM_011523543.2 | 166 | UTR 5 | XP_011521845.1 | |||
XM_011523544.2 | 166 | Missense Mutation | TTC,TTG | F,L 40 | XP_011521846.1 | |
XM_017024449.1 | 166 | UTR 5 | XP_016879938.1 | |||
XM_017024450.1 | 166 | UTR 5 | XP_016879939.1 |