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AACTTTTTTAAAACAGCTGTTGTTG[G/T]CCTACTGTACCCCTGTATCGACAGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602055 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
INSIG1 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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INSIG1 - insulin induced gene 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005542.4 | 633 | Missense Mutation | GGC,GTC | G,V 141 | NP_005533.2 | |
NM_198336.2 | 633 | Intron | NP_938150.2 | |||
NM_198337.2 | 633 | Intron | NP_938151.1 | |||
XM_005249542.1 | 633 | Missense Mutation | GGC,GTC | G,V 141 | XP_005249599.1 | |
XM_005249543.1 | 633 | Missense Mutation | GGC,GTC | G,V 141 | XP_005249600.1 | |
XM_017012177.1 | 633 | Missense Mutation | GGC,GTC | G,V 141 | XP_016867666.1 |