Product Details

SNP ID
rs11264743
Assay Type
Functionally Tested
NCBI dbSNP Submissions
75
Location
Chr.1:153969038 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CAGTGACAGTGGCATCTCTGAGGAC[C/T]CCTGCCATCCAGACAGTCCCCCTGC
Phenotype
MIM: 607138 MIM: 604671 MIM: 604740
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CREB3L4 PubMed Links

Gene Details

Gene
CREB3L4
Gene Name
cAMP responsive element binding protein 3 like 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001255978.1 521 Missense Mutation CCC,TCC P95S NP_001242907.1
NM_001255979.1 521 Missense Mutation CCC,TCC P95S NP_001242908.1
NM_001255980.1 521 Missense Mutation CCC,TCC P75S NP_001242909.1
NM_001255981.1 521 Missense Mutation CCC,TCC P75S NP_001242910.1
NM_130898.3 521 Missense Mutation CCC,TCC P95S NP_570968.1
XM_006711172.2 521 Missense Mutation CCC,TCC P75S XP_006711235.1
XM_017000372.1 521 Missense Mutation CCC,TCC P75S XP_016855861.1
Gene
JTB
Gene Name
jumping translocation breakpoint
There are no transcripts associated with this gene.

Gene
MIR6737
Gene Name
microRNA 6737
There are no transcripts associated with this gene.

Gene
SLC39A1
Gene Name
solute carrier family 39 member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271957.1 521 Intron NP_001258886.1
NM_001271958.1 521 Intron NP_001258887.1
NM_001271959.1 521 Intron NP_001258888.1
NM_001271960.1 521 Intron NP_001258889.1
NM_001271961.1 521 Intron NP_001258890.1
NM_014437.4 521 Intron NP_055252.2

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