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AGCTGCAGCGCTAGGGCTGGAGGCA[A/T]AATCTTTGCTCCTATCCTGCCAATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300187 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SRPX 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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SRPX - sushi repeat containing protein, X-linked | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001170750.1 | 1254 | Missense Mutation | ATG,TTG | M,L 375 | NP_001164221.1 | |
NM_001170751.1 | 1254 | Missense Mutation | ATG,TTG | M,L 336 | NP_001164222.1 | |
NM_001170752.1 | 1254 | Intron | NP_001164223.1 | |||
NM_006307.4 | 1254 | Missense Mutation | ATG,TTG | M,L 395 | NP_006298.1 | |
XM_017029893.1 | 1254 | Missense Mutation | ATG,TTG | M,L 395 | XP_016885382.1 |