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ACCGTGACTACGGGGATCATCTGAG[C/T]AGAGGCTCCCATCGAGAGCCCTTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609665 MIM: 605444 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NLRP14 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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NLRP14 - NLR family pyrin domain containing 14 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_176822.3 | 1012 | Intron | NP_789792.1 | |||
XM_011520044.1 | 1012 | Intron | XP_011518346.1 |
RBMXL2 - RNA binding motif protein, X-linked like 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014469.4 | 1012 | Silent Mutation | AGC,AGT | S,S 275 | NP_055284.3 |