Product Details

SNP ID

rs201818719

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:133357734 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCACCAGTTGTTCTGCAAACTCA[C/T]CCTGCGGCACATCAACAAGTGCCCA

Phenotype

MIM: 185641 MIM: 185640 MIM: 185620 MIM: 185630 MIM: 185660

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MED22 PubMed Links

Gene Details

Gene

MED22

Gene Name

mediator complex subunit 22

There are no transcripts associated with this gene.

Gene

RPL7A

Gene Name

ribosomal protein L7a

There are no transcripts associated with this gene.

Gene

SNORD24

Gene Name

small nucleolar RNA, C/D box 24

There are no transcripts associated with this gene.

Gene

SNORD36A

Gene Name

small nucleolar RNA, C/D box 36A

There are no transcripts associated with this gene.

Gene

SNORD36B

Gene Name

small nucleolar RNA, C/D box 36B

There are no transcripts associated with this gene.

Gene

SNORD36C

Gene Name

small nucleolar RNA, C/D box 36C

There are no transcripts associated with this gene.

Gene

SURF1

Gene Name

surfeit 1

There are no transcripts associated with this gene.

Gene

SURF2

Gene Name

surfeit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278928.1	305	Missense Mutation	ACC,ATC	T86I	NP_001265857.1
NM_017503.4	305	Missense Mutation	ACC,ATC	T86I	NP_059973.4

Gene

SURF4

Gene Name

surfeit 4

There are no transcripts associated with this gene.

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