Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCCTGGCTACTGGGGTTCCCGGTGC[C/T]ATGGTATGGGAGAAAGGGGGACCCC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 615507 MIM: 608560 | |||||||||||||||||||||||
Literature Links: |
NISCH PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
|
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 |
NISCH - nischarin | ||||||
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There are no transcripts associated with this gene. |
STAB1 - stabilin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015136.2 | 404 | Missense Mutation | CAT,TAT | H,Y 110 | NP_055951.2 | |
XM_005264973.3 | 404 | Missense Mutation | CAT,TAT | H,Y 110 | XP_005265030.1 | |
XM_005264974.2 | 404 | Missense Mutation | CAT,TAT | H,Y 110 | XP_005265031.1 | |
XM_006713065.1 | 404 | Missense Mutation | CAT,TAT | H,Y 110 | XP_006713128.1 | |
XM_017005998.1 | 404 | Missense Mutation | CAT,TAT | H,Y 110 | XP_016861487.1 | |
XM_017005999.1 | 404 | Missense Mutation | CAT,TAT | H,Y 110 | XP_016861488.1 | |
XM_017006000.1 | 404 | Missense Mutation | CAT,TAT | H,Y 110 | XP_016861489.1 | |
XM_017006001.1 | 404 | Missense Mutation | CAT,TAT | H,Y 110 | XP_016861490.1 | |
XM_017006002.1 | 404 | Missense Mutation | CAT,TAT | H,Y 110 | XP_016861491.1 | |
XM_017006003.1 | 404 | Missense Mutation | CAT,TAT | H,Y 110 | XP_016861492.1 | |
XM_017006004.1 | 404 | Missense Mutation | CAT,TAT | H,Y 110 | XP_016861493.1 |