Product Details

SNP ID

rs139658465

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:138589369 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGGAGGCCAGGATGTCCAGCTG[G/T]TCCTGTCTCCCCTTGAGGGCCAGGG

Phenotype

MIM: 610026

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

COL22A1 PubMed Links

Gene Details

Gene

COL22A1

Gene Name

collagen type XXII alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152888.2	3364	Missense Mutation	GCA,TCA	A1589S	NP_690848.1
XM_011516883.2	3364	Missense Mutation	GCA,TCA	A1569S	XP_011515185.1
XM_011516884.2	3364	Missense Mutation	GCA,TCA	A1556S	XP_011515186.1
XM_011516885.2	3364	Missense Mutation	GCA,TCA	A1551S	XP_011515187.1
XM_011516886.2	3364	Missense Mutation	GCA,TCA	A1540S	XP_011515188.1
XM_011516887.2	3364	Missense Mutation	GCA,TCA	A1227S	XP_011515189.1
XM_011516888.2	3364	Intron			XP_011515190.1
XM_011516889.2	3364	Missense Mutation	GCA,TCA	A1021S	XP_011515191.1
XM_017013150.1	3364	Missense Mutation	GCA,TCA	A1527S	XP_016868639.1
XM_017013151.1	3364	Missense Mutation	GCA,TCA	A1515S	XP_016868640.1
XM_017013152.1	3364	Missense Mutation	GCA,TCA	A1227S	XP_016868641.1

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