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SNP ID:
rs78728049
Gene
CNST
Gene Name
Set Membership:
-
Chromosome Location:
Chr.1: 246591862 - 246591862 on Build GRCh38
Polymorphism:
A/C, Transversion substitution
Context Sequence [VIC/FAM]:

GTGAAGCCTCCAGAGATGAACAGGC[A/C]TTCTTGGGAAAGGACAAAAAAATTC

Assay ID C_105290073_10
Size
Availability Made To Order
Catalog # 4351379
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 2 submissions

Phenotype:

 MIM: 613439

Literature Links:

 CNST PubMed Links

Allele Nomenclature:

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
CNST - consortin, connexin sorting protein
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001139459.1 578 Silent Mutation GCA,GCC A,A 100 NP_001132931.1
NM_152609.2 578 Silent Mutation GCA,GCC A,A 100 NP_689822.2
XM_005273081.3 578 Silent Mutation GCA,GCC A,A 100 XP_005273138.2
XM_005273083.4 578 Missense Mutation CAT,CCT H,P 4 XP_005273140.1
XM_011544110.2 578 Silent Mutation GCA,GCC A,A 100 XP_011542412.1
XM_011544111.1 578 Silent Mutation GCA,GCC A,A 100 XP_011542413.1
XM_011544112.1 578 Intron XP_011542414.1
XM_011544113.1 578 Missense Mutation CAT,CCT H,P 4 XP_011542415.1
XM_011544114.2 578 Intron XP_011542416.1
XM_017000487.1 578 UTR 5 XP_016855976.1
XM_017000488.1 578 UTR 5 XP_016855977.1
XM_017000489.1 578 UTR 5 XP_016855978.1

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