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GGGCAGGGTCTCGGGCTGGGGCAGG[A/G]TCTTGACGCCAGGTGCGGCTGGCGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610481 MIM: 614715 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SHD 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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SHD - Src homology 2 domain containing transforming protein D | ||||||
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There are no transcripts associated with this gene. |
TMIGD2 - transmembrane and immunoglobulin domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001169126.1 | 404 | Missense Mutation | CCC,TCC | P,S 236 | NP_001162597.1 | |
NM_001308232.1 | 404 | Missense Mutation | CCC,TCC | P,S 120 | NP_001295161.1 | |
NM_144615.2 | 404 | Missense Mutation | CCC,TCC | P,S 240 | NP_653216.2 | |
XM_017026284.1 | 404 | Intron | XP_016881773.1 |