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TTTGTCTTCAATAAATCCATCATCA[A/T]CTACCACAAATGAATGTAATTGTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608040 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IFT74 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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IFT74 - intraflagellar transport 74 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001099222.1 | 1163 | Intron | NP_001092692.1 | |||
NM_001099223.1 | 1163 | Intron | NP_001092693.1 | |||
NM_001099224.1 | 1163 | Intron | NP_001092694.1 | |||
NM_025103.2 | 1163 | Intron | NP_079379.2 | |||
XM_011518035.2 | 1163 | Intron | XP_011516337.1 | |||
XM_011518036.2 | 1163 | Intron | XP_011516338.1 | |||
XM_017015163.1 | 1163 | Intron | XP_016870652.1 | |||
XM_017015164.1 | 1163 | Intron | XP_016870653.1 |
LRRC19 - leucine rich repeat containing 19 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022901.2 | 1163 | Missense Mutation | GAT,GTT | D,V 351 | NP_075052.1 |