Product Details

SNP ID
rs138557594
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50185525 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTACAGGAAGCAGACAGGGCCAA[C/T]GTCGAAGCCGAATTCCTGGTCTGGG
Phenotype
MIM: 120150 MIM: 600119
Polymorphism
C/T, 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 4309 Missense Mutation ATT,GTT I1458V NP_000079.2
XM_005257058.3 4309 Missense Mutation ATT,GTT I1368V XP_005257115.2
XM_005257059.4 4309 Missense Mutation ATT,GTT I1152V XP_005257116.2
XM_011524341.1 4309 Missense Mutation ATT,GTT I1392V XP_011522643.1
Gene
SGCA
Gene Name
sarcoglycan alpha
There are no transcripts associated with this gene.

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