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GCCAGTTCCGCAGCCCGCCGAGCCA[C/T]TTCCACTTTGTAGGAGCCAGGAGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603924 MIM: 602873 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HABP2 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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HABP2 - hyaluronan binding protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001177660.2 | 4881 | Intron | NP_001171131.1 | |||
NM_004132.4 | 4881 | Intron | NP_004123.1 |
NRAP - nebulin related anchoring protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001261463.1 | 4881 | Missense Mutation | ATG,GTG | M,V 1677 | NP_001248392.1 | |
NM_001322945.1 | 4881 | Missense Mutation | ATG,GTG | M,V 1641 | NP_001309874.1 | |
NM_006175.4 | 4881 | Missense Mutation | ATG,GTG | M,V 1642 | NP_006166.3 | |
NM_198060.3 | 4881 | Missense Mutation | ATG,GTG | M,V 1677 | NP_932326.2 | |
XM_005269864.2 | 4881 | Missense Mutation | ATG,GTG | M,V 1642 | XP_005269921.1 | |
XM_005269865.2 | 4881 | Missense Mutation | ATG,GTG | M,V 1641 | XP_005269922.1 | |
XM_005269867.2 | 4881 | Missense Mutation | ATG,GTG | M,V 1573 | XP_005269924.1 | |
XM_006717870.2 | 4881 | Missense Mutation | ATG,GTG | M,V 1642 | XP_006717933.1 | |
XM_011539832.2 | 4881 | Missense Mutation | ATG,GTG | M,V 1641 | XP_011538134.1 |