Product Details

SNP ID

rs6502224

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:12992277 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTACGACGGGAGCTGACTTCTTCCA[A/C]GCCACCCGGGTACCAGGCAGCTGCC

Phenotype

MIM: 605367

Polymorphism

A/C, Transversion 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	3136	Intron			NP_001308093.1
NM_001321166.1	3136	Intron			NP_001308095.1
NM_001321167.1	3136	Intron			NP_001308096.1
NM_001321168.1	3136	Intron			NP_001308097.1
NM_014859.5	3136	Intron			NP_055674.4
XM_005256891.1	3136	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	3136	UTR 3			NP_001159434.1
NM_018127.6	3136	UTR 3			NP_060597.4
NM_173717.1	3136	UTR 3			NP_776065.1

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