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SNP ID

rs143330576

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:24920166 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTCTCGGTATCATTGTCTATATC[C/T]AGCAGGATGCGGCCAGGCACGTCTT

Phenotype

MIM: 608293 MIM: 610238

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ARHGAP17 PubMed Links

Gene Details

Gene

ARHGAP17

Gene Name

Rho GTPase activating protein 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001006634.2	2631	Silent Mutation	CTA,CTG	L870L	NP_001006635.1
NM_018054.5	2631	Silent Mutation	CTA,CTG	L792L	NP_060524.4
XM_011545873.2	2631	Silent Mutation	CTA,CTG	L902L	XP_011544175.1
XM_011545874.2	2631	Silent Mutation	CTA,CTG	L901L	XP_011544176.1
XM_011545875.2	2631	UTR 3			XP_011544177.1
XM_011545876.2	2631	UTR 3			XP_011544178.1
XM_011545877.2	2631	Silent Mutation	CTA,CTG	L825L	XP_011544179.1
XM_011545878.2	2631	Silent Mutation	CTA,CTG	L824L	XP_011544180.1
XM_017023390.1	2631	UTR 3			XP_016878879.1

Gene

SLC5A11

Gene Name

solute carrier family 5 member 11

There are no transcripts associated with this gene.

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