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GTCAGAGCCTCCATCCCAGCTTCAT[C/T]TGCTGACAGACACAGAGAGATTGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
13 submissions
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Phenotype: |
MIM: 606351 MIM: 611101 MIM: 603366 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ESPN 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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ESPN - espin | ||||||
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There are no transcripts associated with this gene. |
PLEKHG5 - pleckstrin homology and RhoGEF domain containing G5 | ||||||
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There are no transcripts associated with this gene. |
TNFRSF25 - TNF receptor superfamily member 25 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039664.1 | 824 | Intron | NP_001034753.1 | |||
NM_003790.2 | 824 | Missense Mutation | AAT,GAT | N,D 237 | NP_003781.1 | |
NM_148965.1 | 824 | Missense Mutation | AAT,GAT | N,D 246 | NP_683866.1 | |
NM_148966.1 | 824 | Intron | NP_683867.1 | |||
NM_148967.1 | 824 | Missense Mutation | AAT,GAT | N,D 192 | NP_683868.1 | |
NM_148970.1 | 824 | Intron | NP_683871.1 |