Product Details

SNP ID

rs147779718

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:12992895 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGAGGCTCCCCATCCTCCAGGC[C/T]GCCTGCCAGCTCCCTGGACAGGAGG

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	2518	Missense Mutation	AGC,GGC	S762G	NP_001159434.1
NM_018127.6	2518	Missense Mutation	AGC,GGC	S802G	NP_060597.4
NM_173717.1	2518	Missense Mutation	AGC,GGC	S801G	NP_776065.1

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