Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTTTGATTCCAGCAGTGAGGAGGAG[A/G]AGGAGGAAGTCCGTGTTGTCCCTGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602332 MIM: 601664 | ||||||||||||||||||||
Literature Links: |
ITPRIPL1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
ITPRIPL1 - inositol 1,4,5-trisphosphate receptor interacting protein-like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001008949.2 | 768 | Missense Mutation | AAG,GAG | K,E 145 | NP_001008949.1 | |
NM_001163523.1 | 768 | Missense Mutation | AAG,GAG | K,E 137 | NP_001156995.1 | |
NM_001163524.1 | 768 | Missense Mutation | AAG,GAG | K,E 137 | NP_001156996.1 | |
NM_001324490.1 | 768 | Missense Mutation | AAG,GAG | K,E 137 | NP_001311419.1 | |
NM_178495.5 | 768 | Missense Mutation | AAG,GAG | K,E 153 | NP_848590.3 | |
XM_017003427.1 | 768 | Missense Mutation | AAG,GAG | K,E 145 | XP_016858916.1 |
LOC105373495 - uncharacterized LOC105373495 | ||||||
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There are no transcripts associated with this gene. |
NCAPH - non-SMC condensin I complex subunit H | ||||||
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There are no transcripts associated with this gene. |
SNRNP200 - small nuclear ribonucleoprotein U5 subunit 200 | ||||||
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There are no transcripts associated with this gene. |