Type | Description |
---|---|
Definition | solute carrier family 35 member D1 |
Date | Results | Publications |
---|---|---|
2017-08-05 10:55:00 | there is a positive association between the GWAS reported rs3762318 and leprosy, and SLC35D1 and IL23R might be the causal genes | 27712858 |
2010-06-30 22:05:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
2010-01-21 00:00:00 | Searched for SLC35D1 mutations, identified four novel mutations in three Schneckenbecken dysplasia families. All mutations result in loss of function. No SLC35D1 mutations were id'd in all patients with other spondylodysplastic dysplasias group diseases. | 19508970 |
2010-01-21 00:00:00 | Loss of function mutations cause Schneckenbecken dysplasia, a severe skeletal dysplasia. | 17952091 |
Type | IDs |
---|---|
Synonymous | SHNKND, UGTREL7 |
Gene |
UniProtKB-ID:
S35D1_HUMAN
UniprotKB:
Q9NTN3
UniParc:
UPI0001914BA7,
UPI0000137AF8
EMBL:
AB044343,
D87449,
BC093786,
AK296449,
BC112031,
AL133320,
AK289800
Ensembl:
ENSG00000116704
KO:
hsa:23169
|
Nucleutide sequences |
EMBL-CDS:
BAB18586.1,
BAF82489.1,
AAI12032.1,
BAH12358.1,
BAA13390.1,
AAH93786.1
Ensembl_TRS:
ENST00000235345
|
Protein sequencees |
Ensembl_PRO:
ENSP00000235345
RefSeq:
NP_055954.1,
XP_006710541.1,
XP_011539372.1
|
Others |
UniRef100:
UniRef100_Q9NTN3
UniRef90:
UniRef90_Q9NTN3
UniRef50:
UniRef50_Q9NTN3
UniGene:
Hs.213642
CCDS:
CCDS636.1
|
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Refseq |
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