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CAACCTGCTACCCCATGCCATCAAC[C/G]TGCGTGAGGTCAACCTGCGCCCCCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604721 MIM: 164875 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SH2D3A 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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SH2D3A - SH2 domain containing 3A | ||||||
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There are no transcripts associated with this gene. |
VAV1 - vav guanine nucleotide exchange factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001258206.1 | 309 | Missense Mutation | CTG,GTG | L,V 57 | NP_001245135.1 | |
NM_001258207.1 | 309 | Missense Mutation | CTG,GTG | L,V 57 | NP_001245136.1 | |
NM_005428.3 | 309 | Missense Mutation | CTG,GTG | L,V 57 | NP_005419.2 | |
XM_005259642.1 | 309 | Missense Mutation | CTG,GTG | L,V 57 | XP_005259699.1 |