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TAAGCCTTGGAGAGTGGATGACTCA[A/G]AGGGTTCTTGGATCCCACCTGGGGA
Species: |
Human | ||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 609017 | ||||||||||||||||||||||||||
Literature Links: |
ERMAP PubMed Links | ||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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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 | JPT (Japanese)
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AFR - Not Available | Japanese - Not Available | CHB (Han Chinese)
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EUR - Not Available | |||||
AMR - Not Available |
ERMAP - erythroblast membrane associated protein (Scianna blood group) | ||||||
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There are no transcripts associated with this gene. |
LOC339539 - uncharacterized LOC339539 | ||||||
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There are no transcripts associated with this gene. |
ZNF691 - zinc finger protein 691 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001242739.1 | 4162 | Missense Mutation | AAG,GAG | K,E 60 | NP_001229668.1 | |
NM_015911.3 | 4162 | Missense Mutation | AAG,GAG | K,E 29 | NP_056995.1 | |
XM_006710671.3 | 4162 | Missense Mutation | AAG,GAG | K,E 56 | XP_006710734.1 | |
XM_017001400.1 | 4162 | Missense Mutation | AAG,GAG | K,E 60 | XP_016856889.1 | |
XM_017001401.1 | 4162 | Missense Mutation | AAG,GAG | K,E 60 | XP_016856890.1 | |
XM_017001402.1 | 4162 | Missense Mutation | AAG,GAG | K,E 51 | XP_016856891.1 | |
XM_017001403.1 | 4162 | Missense Mutation | AAG,GAG | K,E 51 | XP_016856892.1 |
Set Membership: |
HapMap |