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SNP ID: rs184244078
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:65593367 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACTACCCCTCCCACGCCGTGCCCTG[A/G]AGTGAGGTCCCTCCACCTGCAAGGC
Phenotype: MIM: 603940 MIM: 600050
Polymorphism: A/G, 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	1051	Intron			NP_001092879.1
XM_005273867.3	1051	Intron			XP_005273924.1
XM_005273868.3	1051	Intron			XP_005273925.1
XM_005273869.3	1051	Intron			XP_005273926.1
XM_005273870.3	1051	Intron			XP_005273927.1
XM_006718486.3	1051	Intron			XP_006718549.1
XM_006718487.3	1051	Intron			XP_006718550.1
XM_011544886.2	1051	Intron			XP_011543188.1
XM_017017467.1	1051	Intron			XP_016872956.1
XM_017017468.1	1051	Intron			XP_016872957.1
XM_017017469.1	1051	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	1051	UTR 3			NP_005705.1
NM_033347.1	1051	Intron			NP_203133.1
NM_033348.1	1051	Silent Mutation	CTC,CTT	L245L	NP_203134.1
NM_033455.1	1051	Silent Mutation	CTC,CTT	L245L	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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