Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTTTCAGGCAGGGCCCAGAAGCCCC[A/G]GGGAACGGAGGCAGGAATCGCCAAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607762 MIM: 602716 | ||||||||||||||||||||
Literature Links: |
KIRREL2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
KIRREL2 - kin of IRRE like 2 (Drosophila) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032123.6 | 250 | Intron | NP_115499.5 | |||
NM_199179.3 | 250 | Intron | NP_954648.3 | |||
NM_199180.3 | 250 | Intron | NP_954649.3 | |||
XM_011527362.1 | 250 | UTR 5 | XP_011525664.1 | |||
XM_011527363.1 | 250 | Intron | XP_011525665.1 | |||
XM_011527365.1 | 250 | UTR 5 | XP_011525667.1 | |||
XM_011527366.1 | 250 | Intron | XP_011525668.1 | |||
XM_017027348.1 | 250 | Intron | XP_016882837.1 |
NPHS1 - NPHS1, nephrin | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004646.3 | 250 | Missense Mutation | CGG,TGG | R,W 32 | NP_004637.1 |