Product Details

SNP ID

rs77340213

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:2323725 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTACAGCTGGTGTTGGAGTGGCTG[C/G]TGTGCTGTCTCAACATTTTCAAACT

Phenotype

MIM: 606477 MIM: 611214

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SNORD91A PubMed Links

Gene Details

Gene

SNORD91A

Gene Name

small nucleolar RNA, C/D box 91A

There are no transcripts associated with this gene.

Gene

SNORD91B

Gene Name

small nucleolar RNA, C/D box 91B

There are no transcripts associated with this gene.

Gene

SRR

Gene Name

serine racemase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304803.1	2164	Missense Mutation	GCT,GGT	A143G	NP_001291732.1
NM_021947.2	2164	Missense Mutation	GCT,GGT	A292G	NP_068766.1
XM_006721565.3	2164	Missense Mutation	GCT,GGT	A292G	XP_006721628.1
XM_006721566.3	2164	Missense Mutation	GCT,GGT	A292G	XP_006721629.1
XM_011523974.2	2164	Missense Mutation	GCT,GGT	A292G	XP_011522276.1

Gene

TSR1

Gene Name

TSR1, ribosome maturation factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018128.4	2164	UTR 3			NP_060598.3

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