Product Details

SNP ID
rs138379290
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:64227605 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAATGAGGTGAGTGTTTGAGAGGC[C/T]TTTTCTGCCCTTAAGTAGAGATGCG
Phenotype
MIM: 601663 MIM: 608442
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ESR2 PubMed Links

Gene Details

Gene
ESR2
Gene Name
estrogen receptor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040275.1 3144 Silent Mutation AAA,AAG K472K NP_001035365.1
NM_001214902.1 3144 UTR 3 NP_001201831.1
NM_001271876.1 3144 Intron NP_001258805.1
NM_001271877.1 3144 Intron NP_001258806.1
NM_001291712.1 3144 Silent Mutation AAA,AAG K472K NP_001278641.1
NM_001291723.1 3144 Silent Mutation AAA,AAG K472K NP_001278652.1
NM_001437.2 3144 Intron NP_001428.1
XM_017021079.1 3144 Intron XP_016876568.1
XM_017021080.1 3144 Intron XP_016876569.1
XM_017021081.1 3144 Intron XP_016876570.1
XM_017021082.1 3144 Intron XP_016876571.1
XM_017021083.1 3144 Intron XP_016876572.1
XM_017021084.1 3144 Silent Mutation AAA,AAG K472K XP_016876573.1
Gene
SYNE2
Gene Name
spectrin repeat containing nuclear envelope protein 2
There are no transcripts associated with this gene.

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