Product Details

SNP ID

rs28763980

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:74035425 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTCTTTTATCCAGGTAACGTACA[C/T]GAAACTTCCACACACCCAGGTCATG

Phenotype

MIM: 130160

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ELN PubMed Links

Gene Details

Gene

ELN

Gene Name

elastin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000501.3		Intron			NP_000492.2
NM_001081752.2		Intron			NP_001075221.1
NM_001081753.2		Intron			NP_001075222.1
NM_001081754.2		Intron			NP_001075223.1
NM_001081755.2		Intron			NP_001075224.1
NM_001278912.1		Intron			NP_001265841.1
NM_001278913.1		Intron			NP_001265842.1
NM_001278914.1		Intron			NP_001265843.1
NM_001278915.1		Intron			NP_001265844.1
NM_001278916.1		Intron			NP_001265845.1
NM_001278917.1		Intron			NP_001265846.1
NM_001278918.1		Intron			NP_001265847.1
NM_001278939.1		Intron			NP_001265868.1
XM_005250187.1		Intron			XP_005250244.1
XM_005250188.1		Intron			XP_005250245.1
XM_011515868.1		Intron			XP_011514170.1
XM_011515869.1		Intron			XP_011514171.1
XM_011515870.1		Intron			XP_011514172.1
XM_011515871.1		Intron			XP_011514173.1
XM_011515872.1		Intron			XP_011514174.1
XM_011515873.1		Intron			XP_011514175.1
XM_011515874.1		Intron			XP_011514176.1
XM_011515875.1		Intron			XP_011514177.1
XM_011515876.1		Intron			XP_011514178.1
XM_011515877.1		Intron			XP_011514179.1
XM_017011813.1		Intron			XP_016867302.1
XM_017011814.1		Intron			XP_016867303.1

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