Product Details

SNP ID

rs2704505

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:69802014 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCCACCTCTGCCCATGGGGCCCTCC[A/G]TGTGCGCCCCTTCGCCCGGGGACTG

Phenotype

MIM: 120350

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COL13A1 PubMed Links

Gene Details

Gene

COL13A1

Gene Name

collagen type XIII alpha 1 chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130103.1	130	UTR 5			NP_001123575.1
NM_001320951.1	130	UTR 5			NP_001307880.1
NM_080798.3	130	UTR 5			NP_542988.3
NM_080800.3	130	UTR 5			NP_542990.3
NM_080801.3	130	UTR 5			NP_542991.3
NM_080802.3	130	UTR 5			NP_542992.3
NM_080805.3	130	UTR 5			NP_542995.3
XM_011539292.2	130	UTR 5			XP_011537594.1
XM_011539293.2	130	UTR 5			XP_011537595.1
XM_011539294.2	130	UTR 5			XP_011537596.1
XM_011539295.2	130	UTR 5			XP_011537597.1
XM_017015676.1	130	UTR 5			XP_016871165.1
XM_017015677.1	130	UTR 5			XP_016871166.1
XM_017015678.1	130	UTR 5			XP_016871167.1
XM_017015679.1	130	UTR 5			XP_016871168.1
XM_017015680.1	130	UTR 5			XP_016871169.1
XM_017015681.1	130	UTR 5			XP_016871170.1
XM_017015682.1	130	UTR 5			XP_016871171.1
XM_017015683.1	130	UTR 5			XP_016871172.1
XM_017015684.1	130	UTR 5			XP_016871173.1
XM_017015685.1	130	UTR 5			XP_016871174.1
XM_017015686.1	130	UTR 5			XP_016871175.1
XM_017015687.1	130	UTR 5			XP_016871176.1
XM_017015688.1	130	UTR 5			XP_016871177.1
XM_017015689.1	130	UTR 5			XP_016871178.1
XM_017015690.1	130	UTR 5			XP_016871179.1
XM_017015691.1	130	UTR 5			XP_016871180.1
XM_017015692.1	130	UTR 5			XP_016871181.1
XM_017015693.1	130	UTR 5			XP_016871182.1
XM_017015694.1	130	UTR 5			XP_016871183.1
XM_017015695.1	130	UTR 5			XP_016871184.1
XM_017015696.1	130	Intron			XP_016871185.1
XM_017015697.1	130	Intron			XP_016871186.1

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