Product Details

SNP ID

rs140823487

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:48562916 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACATCCAGCGATAGGACAATGCGC[A/G]AGCCAGGGTGGCGGGTGGGGCTGCA

Phenotype

MIM: 120120 MIM: 605320 MIM: 605902

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COL7A1 PubMed Links

Gene Details

Gene

COL7A1

Gene Name

collagen type VII alpha 1

There are no transcripts associated with this gene.

Gene

PFKFB4

Gene Name

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317134.1	287	Intron			NP_001304063.1
NM_001317135.1	287	Intron			NP_001304064.1
NM_001317136.1	287	Intron			NP_001304065.1
NM_001317137.1	287	Intron			NP_001304066.1
NM_001317138.1	287	Intron			NP_001304067.1
NM_004567.3	287	Intron			NP_004558.1
XM_011533829.2	287	Intron			XP_011532131.1
XM_017006614.1	287	Intron			XP_016862103.1
XM_017006615.1	287	Intron			XP_016862104.1
XM_017006616.1	287	Intron			XP_016862105.1
XM_017006617.1	287	Intron			XP_016862106.1

Gene

UCN2

Gene Name

urocortin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033199.3	287	Missense Mutation	TCG,TTG	S70L	NP_149976.1

View Full Product Details