Product Details

SNP ID

rs147018918

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:97822260 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCCTGGCACAGCTTCTCCCGGTT[A/C]TTCGCTCCCCGAAGTCCTTCCCGGG

Phenotype

MIM: 608845

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ARL6 PubMed Links

Gene Details

Gene

ARL6

Gene Name

ADP ribosylation factor like GTPase 6

There are no transcripts associated with this gene.

Gene

CRYBG3

Gene Name

crystallin beta-gamma domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153605.3	221	Missense Mutation	TTA,TTC	L18F	NP_705833.3
XM_005247117.4	221	Intron			XP_005247174.1

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