Product Details

SNP ID

rs199998904

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:12993024 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGGGGGAATCAGCTTGGGCATTG[C/T]TGGAAAGTCTCCAAAGCAGACCTAG

Phenotype

MIM: 605367

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ARHGAP44 PubMed Links

Gene Details

Gene

ARHGAP44

Gene Name

Rho GTPase activating protein 44

There are no transcripts associated with this gene.

Gene

ELAC2

Gene Name

elaC ribonuclease Z 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001165962.1	2389	Missense Mutation	ACA,GCA	T719A	NP_001159434.1
NM_018127.6	2389	Missense Mutation	ACA,GCA	T759A	NP_060597.4
NM_173717.1	2389	Missense Mutation	ACA,GCA	T758A	NP_776065.1

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