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TGTGGATGGTACCTGAGAATGTGGA[C/G]ATCTCTGTGACCCTCTACAGGGTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616128 MIM: 606044 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EHBP1L1 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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EHBP1L1 - EH domain binding protein 1 like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001099409.1 | 505 | Missense Mutation | GAC,GAG | D,E 79 | NP_001092879.1 | |
XM_005273867.3 | 505 | Missense Mutation | GAC,GAG | D,E 79 | XP_005273924.1 | |
XM_005273868.3 | 505 | Missense Mutation | GAC,GAG | D,E 79 | XP_005273925.1 | |
XM_005273869.3 | 505 | Missense Mutation | GAC,GAG | D,E 79 | XP_005273926.1 | |
XM_005273870.3 | 505 | Missense Mutation | GAC,GAG | D,E 79 | XP_005273927.1 | |
XM_006718486.3 | 505 | Missense Mutation | GAC,GAG | D,E 79 | XP_006718549.1 | |
XM_006718487.3 | 505 | Missense Mutation | GAC,GAG | D,E 79 | XP_006718550.1 | |
XM_011544886.2 | 505 | Intron | XP_011543188.1 | |||
XM_017017467.1 | 505 | Missense Mutation | GAC,GAG | D,E 46 | XP_016872956.1 | |
XM_017017468.1 | 505 | Missense Mutation | GAC,GAG | D,E 46 | XP_016872957.1 | |
XM_017017469.1 | 505 | Missense Mutation | GAC,GAG | D,E 79 | XP_016872958.1 |
FAM89B - family with sequence similarity 89 member B | ||||||
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There are no transcripts associated with this gene. |
SSSCA1 - Sjogren syndrome/scleroderma autoantigen 1 | ||||||
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There are no transcripts associated with this gene. |
SSSCA1-AS1 - SSSCA1 antisense RNA 1 (head to head) | ||||||
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There are no transcripts associated with this gene. |