Product Details

SNP ID
rs200339149
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:65593095 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGCCCTAGGATGCCACCTTGGTC[C/T]TCAGCAGTCACAGGACCACTGGGTC
Phenotype
MIM: 603940 MIM: 600050
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
EHBP1L1 PubMed Links

Gene Details

Gene
EHBP1L1
Gene Name
EH domain binding protein 1 like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001099409.1 1323 Intron NP_001092879.1
XM_005273867.3 1323 Intron XP_005273924.1
XM_005273868.3 1323 Intron XP_005273925.1
XM_005273869.3 1323 Intron XP_005273926.1
XM_005273870.3 1323 Intron XP_005273927.1
XM_006718486.3 1323 Intron XP_006718549.1
XM_006718487.3 1323 Intron XP_006718550.1
XM_011544886.2 1323 Intron XP_011543188.1
XM_017017467.1 1323 Intron XP_016872956.1
XM_017017468.1 1323 Intron XP_016872957.1
XM_017017469.1 1323 Intron XP_016872958.1
Gene
KCNK7
Gene Name
potassium two pore domain channel subfamily K member 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005714.1 1323 UTR 3 NP_005705.1
NM_033347.1 1323 Silent Mutation GAA,GAG E278E NP_203133.1
NM_033348.1 1323 UTR 3 NP_203134.1
NM_033455.1 1323 UTR 3 NP_258416.1
Gene
MAP3K11
Gene Name
mitogen-activated protein kinase kinase kinase 11
There are no transcripts associated with this gene.

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