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6569 SLC34A1

6569

SLC34A1

solute carrier family 34 member 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 34 member 1

研究结论

Date Results Publications
2021-02-27 13:46:00 Nephrolithiasis from an Unexpected Cause: Phosphaturia. 32858021
2021-02-06 13:57:00 Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria. 32311027
2020-10-24 13:56:00 CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype. 31188746
2020-01-18 12:06:00 Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene. 30227399
2019-09-14 10:05:00 pathogenic alleles of SLC34A1 contribute to both autosomal dominant and autosomal recessive renal stone disease. 29924459

名称对应

Type IDs
Synonymous FRTS2, HCINF2, NAPI-3, NPHLOP1, NPT2, NPTIIa, SLC11, SLC17A2
Gene
UniProtKB-ID: NPT2A_HUMAN, A0A024R7R9_HUMAN, Q7Z725_HUMAN, Q86VN6_HUMAN
UniprotKB: Q06495, A0A024R7R9, Q7Z725, Q86VN6
UniParc: UPI0000130408, UPI00001A3E8B, UPI000018CE7D, UPI00017A78C8
EMBL: L13258, AK298299, BC053349, CH471195, BC050385, AC145098
Ensembl: ENSG00000131183
KO: hsa:6569
Nucleutide sequences
EMBL-CDS: BAG60555.1, AAA36354.1, EAW85010.1, EAW85008.1, AAH53349.1, AAH50385.1
Gene_ORFName: hCG_41577
Ensembl_TRS: ENST00000512593, ENST00000324417
Protein sequencees
Ensembl_PRO: ENSP00000321424, ENSP00000423022
RefSeq: XP_016865263.1, XP_024301959.1, NP_003043.3, NP_001161051.1, XP_016865262.1, XP_016865264.1
Others
UniRef100: UniRef100_Q06495, UniRef100_Q86VN6, UniRef100_Q7Z725
UniRef90: UniRef90_Q06495
UniRef50: UniRef50_Q06495
UniGene: Hs.936
CCDS: CCDS4418.1, CCDS54953.1

全选

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研究热度

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