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CTTCTAGTACCTTCCAGGCAGCCCC[A/G]GCGACTGGAGAAGCCACCCTGAAAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616601 MIM: 600826 MIM: 608719 MIM: 603200 | ||||||||||||||||||||
Literature Links: |
BORCS8 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
BORCS8 - BLOC-1 related complex subunit 8 | ||||||
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There are no transcripts associated with this gene. |
BORCS8-MEF2B - BORCS8-MEF2B readthrough | ||||||
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There are no transcripts associated with this gene. |
NCAN - neurocan | ||||||
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There are no transcripts associated with this gene. |
NR2C2AP - nuclear receptor 2C2 associated protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300945.1 | 613 | Missense Mutation | CGG,TGG | R,W 74 | NP_001287874.1 | |
NM_176880.5 | 613 | Missense Mutation | CGG,TGG | R,W 74 | NP_795361.1 | |
XM_011527688.2 | 613 | Missense Mutation | CGG,TGG | R,W 74 | XP_011525990.1 |
RFXANK - regulatory factor X associated ankyrin containing protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278727.1 | 613 | Intron | NP_001265656.1 | |||
NM_001278728.1 | 613 | Intron | NP_001265657.1 | |||
NM_003721.3 | 613 | Intron | NP_003712.1 | |||
NM_134440.2 | 613 | Intron | NP_604389.1 | |||
XM_005260134.4 | 613 | Intron | XP_005260191.1 | |||
XM_005260135.3 | 613 | Intron | XP_005260192.1 | |||
XM_005260136.4 | 613 | Intron | XP_005260193.1 | |||
XM_005260137.4 | 613 | Intron | XP_005260194.1 | |||
XM_006722930.3 | 613 | Intron | XP_006722993.1 | |||
XM_017027415.1 | 613 | Intron | XP_016882904.1 | |||
XM_017027416.1 | 613 | Intron | XP_016882905.1 |