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TTCCCCAGACACATAGTGGATCTGT[A/G]TGGCGTGTGACATGGGCCCATCCTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609263 | ||||||||||||||||||||
Literature Links: |
SEH1L 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 |
SEH1L - SEH1 like nucleoporin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001013437.1 | 488 | Silent Mutation | GTA,GTG | V,V 60 | NP_001013455.1 | |
NM_031216.3 | 488 | Silent Mutation | GTA,GTG | V,V 60 | NP_112493.2 | |
XM_005258152.4 | 488 | Intron | XP_005258209.1 | |||
XM_011525742.2 | 488 | Silent Mutation | GTA,GTG | V,V 60 | XP_011524044.1 | |
XM_011525743.2 | 488 | Intron | XP_011524045.1 | |||
XM_011525744.1 | 488 | Silent Mutation | GTA,GTG | V,V 60 | XP_011524046.1 | |
XM_011525745.2 | 488 | Intron | XP_011524047.1 | |||
XM_011525746.2 | 488 | UTR 5 | XP_011524048.1 | |||
XM_017026025.1 | 488 | Intron | XP_016881514.1 | |||
XM_017026026.1 | 488 | Intron | XP_016881515.1 | |||
XM_017026027.1 | 488 | UTR 5 | XP_016881516.1 |