Product Details

SNP ID

rs111627205

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:32487272 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAAGGAAACTCATTCACACTTCAG[A/G]TCCTTCTCCTCCAGGAACCAGCTGC

Phenotype

MIM: 612927 MIM: 607285

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AVL9 PubMed Links

Gene Details

Gene

AVL9

Gene Name

AVL9 cell migration associated

There are no transcripts associated with this gene.

Gene

LSM5

Gene Name

LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130710.1	311	Missense Mutation	CCT,TCT	P60S	NP_001124182.1
NM_001139499.1	311	Missense Mutation	CCT,TCT	P60S	NP_001132971.1
NM_012322.2	311	Missense Mutation	CCT,TCT	P89S	NP_036454.1

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