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SNP ID: rs148546122
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.8:144523047 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGGAAGAGCATGCCGCTGCCCGTGT[C/T]GGATGCCGAGTGTCCGCCCAGGCCC
Phenotype: MIM: 615880 MIM: 603780
Polymorphism: C/T, Transition 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	1102	UTR 3			NP_001258965.1
NM_014665.3	1102	UTR 3			NP_055480.1
XM_005272358.4	1102	UTR 3			XP_005272415.1
XM_005272359.4	1102	UTR 3			XP_005272416.1
XM_005272360.4	1102	UTR 3			XP_005272417.1
XM_017014005.1	1102	UTR 3			XP_016869494.1

Gene: LRRC24
Gene Name: leucine rich repeat containing 24

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024678.3	1102	Missense Mutation	AAC,GAC	N324D	NP_001019849.2

Gene: RECQL4
Gene Name: RecQ like helicase 4

There are no transcripts associated with this gene.

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