Product Details

SNP ID

hCV11996705

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:74028188 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGGCTGGGGCATTTCTCCCCGAG[A/G]TGGCGGGTCTGACGGCGGCGGCCCC

Phenotype

MIM: 130160

Polymorphism

A/G, 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	400	Missense Mutation	ATG,GTG	M1V	NP_000492.2
NM_001081752.2	400	Missense Mutation	ATG,GTG	M1V	NP_001075221.1
NM_001081753.2	400	Missense Mutation	ATG,GTG	M1V	NP_001075222.1
NM_001081754.2	400	Missense Mutation	ATG,GTG	M1V	NP_001075223.1
NM_001081755.2	400	Missense Mutation	ATG,GTG	M1V	NP_001075224.1
NM_001278912.1	400	Missense Mutation	ATG,GTG	M1V	NP_001265841.1
NM_001278913.1	400	Missense Mutation	ATG,GTG	M1V	NP_001265842.1
NM_001278914.1	400	Missense Mutation	ATG,GTG	M1V	NP_001265843.1
NM_001278915.1	400	Missense Mutation	ATG,GTG	M1V	NP_001265844.1
NM_001278916.1	400	Missense Mutation	ATG,GTG	M1V	NP_001265845.1
NM_001278917.1	400	Missense Mutation	ATG,GTG	M1V	NP_001265846.1
NM_001278918.1	400	Missense Mutation	ATG,GTG	M1V	NP_001265847.1
NM_001278939.1	400	Missense Mutation	ATG,GTG	M1V	NP_001265868.1

View Full Product Details