Product Details

SNP ID

rs1046564

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:12991829 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTCTCCTGGGTAGGGAATATACA[C/T]AATAAATACTAGATTCAACTTACTT

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321164.1	3584	Intron			NP_001308093.1
NM_001321166.1	3584	Intron			NP_001308095.1
NM_001321167.1	3584	Intron			NP_001308096.1
NM_001321168.1	3584	Intron			NP_001308097.1
NM_014859.5	3584	Intron			NP_055674.4
XM_005256891.1	3584	Intron			XP_005256948.1

Gene

ELAC2

Gene Name

elaC ribonuclease Z 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001165962.1	3584	UTR 3			NP_001159434.1
NM_018127.6	3584	UTR 3			NP_060597.4
NM_173717.1	3584	UTR 3			NP_776065.1

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