Product Details

SNP ID

rs149647871

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:141654111 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGTCTCTCCTTTCCTCAGGATGA[A/G]GCTGCTGAGCTCCTGGAGCAGCTGT

Phenotype

MIM: 606647

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARAP3 PubMed Links

Gene Details

Gene

ARAP3

Gene Name

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022481.5	3971	Missense Mutation	CTC,TTC	L1492F	NP_071926.4
XM_005268497.1	3971	Missense Mutation	CTC,TTC	L1479F	XP_005268554.1
XM_005268498.1	3971	Missense Mutation	CTC,TTC	L1472F	XP_005268555.1
XM_005268499.1	3971	Missense Mutation	CTC,TTC	L1414F	XP_005268556.1
XM_005268500.3	3971	Intron			XP_005268557.1
XM_006714792.1	3971	Missense Mutation	CTC,TTC	L1421F	XP_006714855.1
XM_011537677.2	3971	Missense Mutation	CTC,TTC	L1297F	XP_011535979.1

Gene

FCHSD1

Gene Name

FCH and double SH3 domains 1

There are no transcripts associated with this gene.

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