Product Details

SNP ID

rs3817398

Assay Type

Validated

NCBI dbSNP Submissions

56

Location

Chr.1:31653830 on Build GRCh38

Set Membership

HapMap JSNP Validated

Context Sequence [VIC/FAM]

GAATACTTAGGCCTGCCCCAAAGAA[C/T]TACATGTGTCCCTTGGGAACTGTAG

Phenotype

MIM: 120326 MIM: 610033

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COL16A1 PubMed Links

Gene Details

Gene

COL16A1

Gene Name

collagen type XVI alpha 1 chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001856.3		Intron			NP_001847.3
XM_005270481.1		Intron			XP_005270538.1
XM_011540722.1		Intron			XP_011539024.1
XM_011540723.1		Intron			XP_011539025.1
XM_011540724.1		Intron			XP_011539026.1
XM_011540726.2		Intron			XP_011539028.1
XM_011540727.2		Intron			XP_011539029.1
XM_011540728.2		Intron			XP_011539030.1
XM_011540729.1		Intron			XP_011539031.1
XM_011540730.1		Intron			XP_011539032.1
XM_017000338.1		Intron			XP_016855827.1
XM_017000339.1		Intron			XP_016855828.1
XM_017000340.1		Intron			XP_016855829.1
XM_017000341.1		Intron			XP_016855830.1

Gene

PEF1

Gene Name

penta-EF-hand domain containing 1

There are no transcripts associated with this gene.

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