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TTCCTGCGGTCCTTGTTCTGGCTGC[A/G]CTGAGGGTCATCCATCTTGTGGACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605991 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C2orf82 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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C2orf82 - chromosome 2 open reading frame 82 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_206895.1 | 1334 | Intron | NP_996778.1 | |||
XM_017004080.1 | 1334 | Intron | XP_016859569.1 | |||
XM_017004081.1 | 1334 | Intron | XP_016859570.1 | |||
XM_017004082.1 | 1334 | Intron | XP_016859571.1 | |||
XM_017004083.1 | 1334 | Intron | XP_016859572.1 | |||
XM_017004084.1 | 1334 | Intron | XP_016859573.1 |
NGEF - neuronal guanine nucleotide exchange factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001114090.1 | 1334 | Missense Mutation | CGC,TGC | R,C 603 | NP_001107562.1 | |
NM_019850.2 | 1334 | Missense Mutation | CGC,TGC | R,C 695 | NP_062824.2 | |
XM_011510923.2 | 1334 | Missense Mutation | CGC,TGC | R,C 695 | XP_011509225.1 | |
XM_011510924.1 | 1334 | Missense Mutation | CGC,TGC | R,C 418 | XP_011509226.1 | |
XM_011510925.1 | 1334 | Missense Mutation | CGC,TGC | R,C 418 | XP_011509227.1 |