Product Details

SNP ID

rs114701791

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:12755028 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAACAGCGCCCTTAAGCTGCTGCT[C/T]GAGGTGGGCCCAACCAGGAGGTCAT

Phenotype

MIM: 601913 MIM: 607335 MIM: 607824

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ASNA1 PubMed Links

Gene Details

Gene

ASNA1

Gene Name

arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)

There are no transcripts associated with this gene.

Gene

BEST2

Gene Name

bestrophin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017682.2	833	Silent Mutation	CTC,CTT	L211L	NP_060152.2
XM_005259963.3	833	Silent Mutation	CTC,CTT	L211L	XP_005260020.1

Gene

HOOK2

Gene Name

hook microtubule-tethering protein 2

There are no transcripts associated with this gene.

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