Product Details

SNP ID

rs17857117

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:50185584 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCAAGGGGGCCACATCGATGATG[C/G]GCAGGCGGGAGGTCTTGGTGGTTTT

Phenotype

MIM: 120150 MIM: 600119

Polymorphism

C/G, Transversion 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	4250	Missense Mutation	CCC,CGC	P1438R	NP_000079.2
XM_005257058.3	4250	Missense Mutation	CCC,CGC	P1348R	XP_005257115.2
XM_005257059.4	4250	Missense Mutation	CCC,CGC	P1132R	XP_005257116.2
XM_011524341.1	4250	Missense Mutation	CCC,CGC	P1372R	XP_011522643.1

Gene

SGCA

Gene Name

sarcoglycan alpha

There are no transcripts associated with this gene.

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