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ACAGCACGGGGTGGAAGGTCTGCGG[C/G]TCGGGGTCCATGTCAGTGCAGAAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600284 MIM: 611670 MIM: 607391 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ELL 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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ELL - elongation factor for RNA polymerase II | ||||||
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There are no transcripts associated with this gene. |
ISYNA1 - inositol-3-phosphate synthase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001170938.1 | 1269 | Silent Mutation | GAC,GAG | D,E 395 | NP_001164409.1 | |
NM_001253389.1 | 1269 | Silent Mutation | GAC,GAG | D,E 321 | NP_001240318.1 | |
NM_016368.4 | 1269 | Silent Mutation | GAC,GAG | D,E 449 | NP_057452.1 | |
XM_011528059.1 | 1269 | Missense Mutation | GAC,GAG | D,E 517 | XP_011526361.1 |
SSBP4 - single stranded DNA binding protein 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001009998.3 | 1269 | Intron | NP_001009998.1 | |||
NM_032627.4 | 1269 | Intron | NP_116016.1 | |||
XM_005259790.3 | 1269 | Intron | XP_005259847.1 | |||
XM_006722665.3 | 1269 | Intron | XP_006722728.1 | |||
XM_006722666.2 | 1269 | Intron | XP_006722729.1 | |||
XM_006722668.2 | 1269 | Intron | XP_006722731.1 | |||
XM_017026431.1 | 1269 | Intron | XP_016881920.1 | |||
XM_017026432.1 | 1269 | Intron | XP_016881921.1 | |||
XM_017026433.1 | 1269 | Intron | XP_016881922.1 | |||
XM_017026434.1 | 1269 | Intron | XP_016881923.1 | |||
XM_017026435.1 | 1269 | Intron | XP_016881924.1 | |||
XM_017026436.1 | 1269 | Intron | XP_016881925.1 | |||
XM_017026437.1 | 1269 | Intron | XP_016881926.1 |