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- SNP ID:
- rs146787893
- Gene
-
SH3D19 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.4: 151127647 - 151127647 on Build GRCh38
- Polymorphism:
- C/G, Transversion substitution
- Context Sequence [VIC/FAM]:
AAGGAAAGTTCATCTTCATTCTCCC[C/G]TCGGAAATCATATAAGGCTTTGGCC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608674
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Literature Links: |
SH3D19 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 |
| SH3D19 - SH3 domain containing 19 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001009555.3 | 3236 | Missense Mutation | CGG,GGG | R,G 743 | NP_001009555.3 | |
| NM_001128923.1 | 3236 | Missense Mutation | CGG,GGG | R,G 720 | NP_001122395.1 | |
| NM_001128924.1 | 3236 | Missense Mutation | CGG,GGG | R,G 684 | NP_001122396.1 | |
| NM_001243349.1 | 3236 | Missense Mutation | CGG,GGG | R,G 720 | NP_001230278.1 | |
| XM_005262767.2 | 3236 | Missense Mutation | CGG,GGG | R,G 743 | XP_005262824.1 | |
| XM_011531646.1 | 3236 | Missense Mutation | CGG,GGG | R,G 743 | XP_011529948.1 | |
| XM_011531647.1 | 3236 | Missense Mutation | CGG,GGG | R,G 707 | XP_011529949.1 | |
| XM_011531648.1 | 3236 | Missense Mutation | CGG,GGG | R,G 967 | XP_011529950.1 | |
| XM_011531649.1 | 3236 | Missense Mutation | CGG,GGG | R,G 684 | XP_011529951.1 | |
| XM_017007778.1 | 3236 | Missense Mutation | CGG,GGG | R,G 964 | XP_016863267.1 | |
| XM_017007779.1 | 3236 | Missense Mutation | CGG,GGG | R,G 684 | XP_016863268.1 | |
| XM_017007780.1 | 3236 | Missense Mutation | CGG,GGG | R,G 941 | XP_016863269.1 | |
| XM_017007781.1 | 3236 | Missense Mutation | CGG,GGG | R,G 743 | XP_016863270.1 | |
| XM_017007782.1 | 3236 | Missense Mutation | CGG,GGG | R,G 720 | XP_016863271.1 | |
| XM_017007783.1 | 3236 | Missense Mutation | CGG,GGG | R,G 720 | XP_016863272.1 | |
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