Product Details

SNP ID

rs200117442

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:76567539 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCCAAAATGTGTGTTAATCAACT[G/T]TGATTTCAAGAACCTGGAAGCAAAA

Phenotype

MIM: 608759 MIM: 610137

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CYGB PubMed Links

Gene Details

Gene

CYGB

Gene Name

cytoglobin

There are no transcripts associated with this gene.

Gene

SNHG16

Gene Name

small nucleolar RNA host gene 16

There are no transcripts associated with this gene.

Gene

SNORD1A

Gene Name

small nucleolar RNA, C/D box 1A

There are no transcripts associated with this gene.

Gene

SNORD1B

Gene Name

small nucleolar RNA, C/D box 1B

There are no transcripts associated with this gene.

Gene

SNORD1C

Gene Name

small nucleolar RNA, C/D box 1C

There are no transcripts associated with this gene.

Gene

ST6GALNAC2

Gene Name

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006456.2	1045	Missense Mutation	AAG,CAG	K291Q	NP_006447.2
XM_005256954.3	1045	Missense Mutation	AAG,CAG	K263Q	XP_005257011.1

View Full Product Details