Product Details

SNP ID

rs12791960

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:12377682 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCCGCAGAAGTCGCCTTCTGTCC[A/C]CAAGTCTCCCACTCCCAAGTCGCCC

Phenotype

MIM: 608120

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PARVA PubMed Links

Gene Details

Gene

PARVA

Gene Name

parvin alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018222.4	204	Missense Mutation	CAC,CCC	H52P	NP_060692.2
XM_005253015.3	204	Intron			XP_005253072.1

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