Product Details

SNP ID

rs145946202

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:138589349 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCTGGGGGACCGGGAGGTCCTGG[A/G]AGGCCAGGATGTCCAGCTGGTCCTG

Phenotype

MIM: 610026

Polymorphism

A/G, Transition 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	3384	Silent Mutation	CTC,CTT	L1595L	NP_690848.1
XM_011516883.2	3384	Silent Mutation	CTC,CTT	L1575L	XP_011515185.1
XM_011516884.2	3384	Silent Mutation	CTC,CTT	L1562L	XP_011515186.1
XM_011516885.2	3384	Silent Mutation	CTC,CTT	L1557L	XP_011515187.1
XM_011516886.2	3384	Silent Mutation	CTC,CTT	L1546L	XP_011515188.1
XM_011516887.2	3384	Silent Mutation	CTC,CTT	L1233L	XP_011515189.1
XM_011516888.2	3384	Intron			XP_011515190.1
XM_011516889.2	3384	Silent Mutation	CTC,CTT	L1027L	XP_011515191.1
XM_017013150.1	3384	Silent Mutation	CTC,CTT	L1533L	XP_016868639.1
XM_017013151.1	3384	Silent Mutation	CTC,CTT	L1521L	XP_016868640.1
XM_017013152.1	3384	Silent Mutation	CTC,CTT	L1233L	XP_016868641.1

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