Product Details

SNP ID

rs17843776

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:124730559 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGTTTGGGGACTTCGTGCTGAAG[A/G]GCGGGCTTTCCTCCCCCATCTACAT

Phenotype

MIM: 604605 MIM: 613891

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KALRN PubMed Links

Gene Details

Gene

KALRN

Gene Name

kalirin, RhoGEF kinase

There are no transcripts associated with this gene.

Gene

MIR544B

Gene Name

microRNA 544b

There are no transcripts associated with this gene.

Gene

UMPS

Gene Name

uridine monophosphate synthetase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000373.3	194	Missense Mutation	AGC,GGC	S30G	NP_000364.1

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