Product Details
- SNP ID
-
rs189053067
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:65579415 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGTGGATGGTACCTGAGAATGTGGA[C/G]ATCTCTGTGACCCTCTACAGGGTGA
- Phenotype
-
MIM: 616128
MIM: 606044
- Polymorphism
- C/G, Transversion 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 |
505 |
Missense Mutation |
GAC,GAG |
D79E |
NP_001092879.1 |
XM_005273867.3 |
505 |
Missense Mutation |
GAC,GAG |
D79E |
XP_005273924.1 |
XM_005273868.3 |
505 |
Missense Mutation |
GAC,GAG |
D79E |
XP_005273925.1 |
XM_005273869.3 |
505 |
Missense Mutation |
GAC,GAG |
D79E |
XP_005273926.1 |
XM_005273870.3 |
505 |
Missense Mutation |
GAC,GAG |
D79E |
XP_005273927.1 |
XM_006718486.3 |
505 |
Missense Mutation |
GAC,GAG |
D79E |
XP_006718549.1 |
XM_006718487.3 |
505 |
Missense Mutation |
GAC,GAG |
D79E |
XP_006718550.1 |
XM_011544886.2 |
505 |
Intron |
|
|
XP_011543188.1 |
XM_017017467.1 |
505 |
Missense Mutation |
GAC,GAG |
D46E |
XP_016872956.1 |
XM_017017468.1 |
505 |
Missense Mutation |
GAC,GAG |
D46E |
XP_016872957.1 |
XM_017017469.1 |
505 |
Missense Mutation |
GAC,GAG |
D79E |
XP_016872958.1 |
- Gene
- FAM89B
- Gene Name
- family with sequence similarity 89 member B
There are no transcripts associated with this gene.
- Gene
- SSSCA1
- Gene Name
- Sjogren syndrome/scleroderma autoantigen 1
There are no transcripts associated with this gene.
- Gene
- SSSCA1-AS1
- Gene Name
- SSSCA1 antisense RNA 1 (head to head)
There are no transcripts associated with this gene.
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