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TCGGAGCCGCAGGGTCCCTCGGCCA[C/G]TGCCCAGTTGTGGGCCAGAGCCAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605072 MIM: 601032 MIM: 176802 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GIPC1 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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GIPC1 - GIPC PDZ domain containing family member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005716.3 | 626 | Missense Mutation | ACT,AGT | T,S 238 | NP_005707.1 | |
NM_202468.2 | 626 | Missense Mutation | ACT,AGT | T,S 238 | NP_974197.1 | |
NM_202469.2 | 626 | Missense Mutation | ACT,AGT | T,S 141 | NP_974198.1 | |
NM_202470.2 | 626 | Missense Mutation | ACT,AGT | T,S 238 | NP_974199.1 | |
NM_202494.2 | 626 | Missense Mutation | ACT,AGT | T,S 141 | NP_974223.1 | |
XM_017026147.1 | 626 | Missense Mutation | ACT,AGT | T,S 238 | XP_016881636.1 | |
XM_017026148.1 | 626 | Missense Mutation | ACT,AGT | T,S 141 | XP_016881637.1 |
PKN1 - protein kinase N1 | ||||||
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There are no transcripts associated with this gene. |
PTGER1 - prostaglandin E receptor 1 | ||||||
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There are no transcripts associated with this gene. |
SNRPGP15 - small nuclear ribonucleoprotein polypeptide G pseudogene 15 | ||||||
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There are no transcripts associated with this gene. |