Product Details

SNP ID

rs138556491

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:9960765 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGGCTGTAGTCACCCGTGGCTTC[A/G]TCCAGCCAGGCAGCTGCATTCTGGC

Phenotype

MIM: 120216

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COL5A3 PubMed Links

Gene Details

Gene

COL5A3

Gene Name

collagen type V alpha 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015719.3	2764	Silent Mutation	GAC,GAT	D1659D	NP_056534.2
XM_011528042.2	2764	Silent Mutation	GAC,GAT	D1658D	XP_011526344.1
XM_017026849.1	2764	Silent Mutation	GAC,GAT	D880D	XP_016882338.1

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