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GAAGAGTGCGACTTCTTATATTTAC[A/C]TATGAACGCATCTGTCTTTCCAAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611751 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
THUMPD2 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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THUMPD2 - THUMP domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001321468.1 | 1612 | UTR 3 | NP_001308397.1 | |||
NM_001321469.1 | 1612 | Missense Mutation | NP_001308398.1 | |||
NM_001321470.1 | 1612 | Missense Mutation | NP_001308399.1 | |||
NM_001321474.1 | 1612 | UTR 3 | NP_001308403.1 | |||
NM_001321475.1 | 1612 | UTR 3 | NP_001308404.1 | |||
NM_001321477.1 | 1612 | Missense Mutation | NP_001308406.1 | |||
NM_001321478.1 | 1612 | Missense Mutation | NP_001308407.1 | |||
NM_001321479.1 | 1612 | Missense Mutation | NP_001308408.1 | |||
NM_001321480.1 | 1612 | Missense Mutation | NP_001308409.1 | |||
NM_001321481.1 | 1612 | Missense Mutation | NP_001308410.1 | |||
NM_025264.4 | 1612 | Missense Mutation | NP_079540.2 | |||
XM_011533119.2 | 1612 | Missense Mutation | XP_011531421.1 | |||
XM_017005050.1 | 1612 | Missense Mutation | XP_016860539.1 | |||
XM_017005051.1 | 1612 | UTR 3 | XP_016860540.1 | |||
XM_017005052.1 | 1612 | Intron | XP_016860541.1 | |||
XM_017005053.1 | 1612 | Intron | XP_016860542.1 | |||
XM_017005054.1 | 1612 | Missense Mutation | XP_016860543.1 |