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TAAATTCTGAACTGTGTTTTGTACA[C/G]AAGCAGCTTTCAAGGAGTCTAGTAT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 607056 MIM: 612846 | |||||||||||||||||||||||
Literature Links: |
IMPG2 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 - 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 |
IMPG2 - interphotoreceptor matrix proteoglycan 2 | ||||||
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There are no transcripts associated with this gene. |
SENP7 - SUMO1/sentrin specific peptidase 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001077203.2 | 2934 | Missense Mutation | TCT,TGT | S,C 880 | NP_001070671.1 | |
NM_001282801.1 | 2934 | Missense Mutation | TCT,TGT | S,C 879 | NP_001269730.1 | |
NM_001282802.1 | 2934 | Missense Mutation | TCT,TGT | S,C 912 | NP_001269731.1 | |
NM_001282803.1 | 2934 | Missense Mutation | TCT,TGT | S,C 781 | NP_001269732.1 | |
NM_001282804.1 | 2934 | Intron | NP_001269733.1 | |||
NM_020654.4 | 2934 | Missense Mutation | TCT,TGT | S,C 945 | NP_065705.3 | |
XM_005247662.4 | 2934 | Missense Mutation | TCT,TGT | S,C 814 | XP_005247719.1 | |
XM_011513038.2 | 2934 | Missense Mutation | TCT,TGT | S,C 946 | XP_011511340.1 | |
XM_011513039.2 | 2934 | Missense Mutation | TCT,TGT | S,C 913 | XP_011511341.1 | |
XM_011513040.2 | 2934 | Missense Mutation | TCT,TGT | S,C 881 | XP_011511342.1 | |
XM_011513041.2 | 2934 | Missense Mutation | TCT,TGT | S,C 880 | XP_011511343.1 | |
XM_011513042.2 | 2934 | Missense Mutation | TCT,TGT | S,C 815 | XP_011511344.1 | |
XM_011513045.2 | 2934 | Intron | XP_011511347.1 | |||
XM_017006924.1 | 2934 | Missense Mutation | TCT,TGT | S,C 913 | XP_016862413.1 | |
XM_017006925.1 | 2934 | Missense Mutation | TCT,TGT | S,C 912 | XP_016862414.1 | |
XM_017006926.1 | 2934 | Missense Mutation | TCT,TGT | S,C 847 | XP_016862415.1 | |
XM_017006927.1 | 2934 | Missense Mutation | TCT,TGT | S,C 846 | XP_016862416.1 | |
XM_017006928.1 | 2934 | Intron | XP_016862417.1 | |||
XM_017006929.1 | 2934 | Intron | XP_016862418.1 |