Product Details

SNP ID
rs11912824
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:43999345 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGACAGTTAGATGTGCACAAATGC[A/C]CCATGTGTTTAAAGATCACCAAAGA
Phenotype
MIM: 608121 MIM: 612058
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
PARVB PubMed Links

Gene Details

Gene
PARVB
Gene Name
parvin beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001003828.2 135 Missense Mutation CAC,CCC H2P NP_001003828.1
NM_001243385.1 135 Intron NP_001230314.1
NM_001243386.1 135 Intron NP_001230315.1
NM_013327.4 135 Intron NP_037459.2
XM_005261596.1 135 Intron XP_005261653.1
XM_017028792.1 135 Intron XP_016884281.1
Gene
SAMM50
Gene Name
SAMM50 sorting and assembly machinery component
There are no transcripts associated with this gene.

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