Product Details

SNP ID

rs149295671

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:50185590 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGGCCACATCGATGATGGGCAGG[C/T]GGGAGGTCTTGGTGGTTTTGTATTC

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	4244	Missense Mutation	CAC,CGC	H1436R	NP_000079.2
XM_005257058.3	4244	Missense Mutation	CAC,CGC	H1346R	XP_005257115.2
XM_005257059.4	4244	Missense Mutation	CAC,CGC	H1130R	XP_005257116.2
XM_011524341.1	4244	Missense Mutation	CAC,CGC	H1370R	XP_011522643.1

Gene

SGCA

Gene Name

sarcoglycan alpha

There are no transcripts associated with this gene.

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