Product Details

SNP ID

rs200623969

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:5865178 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCCCCCGAAGGACAAGGGACAGG[C/T]GGGTCAGCTGGCCTGCGACGCAGGA

Phenotype

MIM: 607215

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MIR4689 PubMed Links

Gene Details

Gene

MIR4689

Gene Name

microRNA 4689

There are no transcripts associated with this gene.

Gene

NPHP4

Gene Name

nephronophthisis 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291593.1	3045	Missense Mutation	CAC,CGC	H734R	NP_001278522.1
NM_001291594.1	3045	Missense Mutation	CAC,CGC	H735R	NP_001278523.1
NM_015102.4	3045	Missense Mutation	CAC,CGC	H1247R	NP_055917.1
XM_006710563.3	3045	Missense Mutation	CAC,CGC	H1247R	XP_006710626.1
XM_011541213.1	3045	Missense Mutation	CAC,CGC	H1246R	XP_011539515.1
XM_011541214.1	3045	Missense Mutation	CAC,CGC	H1233R	XP_011539516.1
XM_011541215.1	3045	Missense Mutation	CAC,CGC	H1210R	XP_011539517.1
XM_011541216.2	3045	Missense Mutation	CAC,CGC	H1247R	XP_011539518.1
XM_011541217.2	3045	Missense Mutation	CAC,CGC	H1247R	XP_011539519.1
XM_011541218.2	3045	Missense Mutation	CAC,CGC	H1247R	XP_011539520.1
XM_017000996.1	3045	Missense Mutation	CAC,CGC	H1232R	XP_016856485.1
XM_017000997.1	3045	Missense Mutation	CAC,CGC	H1247R	XP_016856486.1
XM_017000998.1	3045	Intron			XP_016856487.1
XM_017000999.1	3045	Missense Mutation	CAC,CGC	H1071R	XP_016856488.1
XM_017001000.1	3045	Missense Mutation	CAC,CGC	H1071R	XP_016856489.1
XM_017001001.1	3045	Missense Mutation	CAC,CGC	H981R	XP_016856490.1
XM_017001002.1	3045	Intron			XP_016856491.1
XM_017001003.1	3045	Missense Mutation	CAC,CGC	H734R	XP_016856492.1

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