Product Details

SNP ID
rs1061947
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50184758 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CACAAGGAACAGAACAGTCTCTCCC[A/G]CCCAGCCCTGCGGCACAAGGGATTG
Phenotype
MIM: 120150 MIM: 600119
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
COL1A1 PubMed Links

Gene Details

Gene
COL1A1
Gene Name
collagen type I alpha 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000088.3 5076 UTR 3 NP_000079.2
XM_005257058.3 5076 UTR 3 XP_005257115.2
XM_005257059.4 5076 UTR 3 XP_005257116.2
XM_011524341.1 5076 UTR 3 XP_011522643.1
Gene
SGCA
Gene Name
sarcoglycan alpha
There are no transcripts associated with this gene.

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