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CACAGGACAGATGTCACCCTTGTGG[T/C]GGCTTCTGTACAAGACGCGGTCCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613037 MIM: 613036 MIM: 612854 | ||||||||||||||||||||
Literature Links: |
INPP5E 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 |
INPP5E - inositol polyphosphate-5-phosphatase E | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318502.1 | 2130 | Missense Mutation | CAC,CGC | H,R 562 | NP_001305431.1 | |
NM_019892.5 | 2130 | Missense Mutation | CAC,CGC | H,R 563 | NP_063945.2 | |
XM_017014926.1 | 2130 | Missense Mutation | CAC,CGC | H,R 563 | XP_016870415.1 |
PMPCA - peptidase, mitochondrial processing alpha subunit | ||||||
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There are no transcripts associated with this gene. |
SEC16A - SEC16 homolog A, endoplasmic reticulum export factor | ||||||
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There are no transcripts associated with this gene. |