Product Details

SNP ID
rs61756149
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:43999554 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAGCAGGAGGCTGGAGCTGAGAC[A/G]TGGGTGTTCCTGCAGCTGGGGCCTG
Phenotype
MIM: 608121 MIM: 612058
Polymorphism
A/G, Transition 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_001003828.2 222 Missense Mutation CAT,CGT H31R NP_001003828.1
NM_001243385.1 222 Intron NP_001230314.1
NM_001243386.1 222 Intron NP_001230315.1
NM_013327.4 222 Intron NP_037459.2
XM_005261596.1 222 Intron XP_005261653.1
XM_017028792.1 222 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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