Product Details

SNP ID

rs149982395

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1090137 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCCTTGGTCATGACGACGTGCTC[A/G]GGGACTAGCTGCCGAGAGAGGAAGC

Phenotype

MIM: 601155 MIM: 180664

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARHGAP45 PubMed Links

Gene Details

Gene

ARHGAP45

Gene Name

Rho GTPase activating protein 45

There are no transcripts associated with this gene.

Gene

POLR2E

Gene Name

RNA polymerase II subunit E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001316323.1	329	Silent Mutation	CCC,CCT	P53P	NP_001303252.1
NM_001316324.1	329	Silent Mutation	CCC,CCT	P53P	NP_001303253.1
NM_002695.3	329	Silent Mutation	CCC,CCT	P146P	NP_002686.2
XM_011528070.2	329	Silent Mutation	CCC,CCT	P146P	XP_011526372.1
XM_017026883.1	329	Silent Mutation	CCC,CCT	P53P	XP_016882372.1

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