Product Details

SNP ID

rs199766948

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144520271 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCTGCGGGTGCTGGACATGACGGG[A/C]CTCTTGGATGATGGTGTGGAACAGG

Phenotype

MIM: 615880 MIM: 603780

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ARHGAP39 PubMed Links

Gene Details

Gene

ARHGAP39

Gene Name

Rho GTPase activating protein 39

There are no transcripts associated with this gene.

Gene

C8orf82

Gene Name

chromosome 8 open reading frame 82

There are no transcripts associated with this gene.

Gene

LRRC14

Gene Name

leucine rich repeat containing 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001272036.1	365	Silent Mutation	GGA,GGC	G121G	NP_001258965.1
NM_014665.3	365	Silent Mutation	GGA,GGC	G121G	NP_055480.1
XM_005272358.4	365	Silent Mutation	GGA,GGC	G121G	XP_005272415.1
XM_005272359.4	365	Silent Mutation	GGA,GGC	G121G	XP_005272416.1
XM_005272360.4	365	Silent Mutation	GGA,GGC	G82G	XP_005272417.1
XM_017014005.1	365	Silent Mutation	GGA,GGC	G82G	XP_016869494.1

Gene

LRRC24

Gene Name

leucine rich repeat containing 24

There are no transcripts associated with this gene.

Gene

MFSD3

Gene Name

major facilitator superfamily domain containing 3

There are no transcripts associated with this gene.

Gene

RECQL4

Gene Name

RecQ like helicase 4

There are no transcripts associated with this gene.

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