Product Details

SNP ID

rs199880488

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:57823667 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGCTCCGCTCAGCTCCTCAAAGA[C/T]TGGGATCAGGTTCAGCAACTCAGTG

Phenotype

MIM: 613397 MIM: 608711 MIM: 613057

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AVIL PubMed Links

Gene Details

Gene

AVIL

Gene Name

advillin

There are no transcripts associated with this gene.

Gene

CTDSP2

Gene Name

CTD small phosphatase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005730.3	1280	Missense Mutation	ATC,GTC	I251V	NP_005721.3
XM_005268556.1	1280	Missense Mutation	ATC,GTC	I257V	XP_005268613.1

Gene

MIR26A2

Gene Name

microRNA 26a-2

There are no transcripts associated with this gene.

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